Klippel-Feil syndrome: a review of the literature Frikha, Rim Frikha, Rim Less Clinical Dysmorphology. 29(1):35-37, January 2020. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Free
Two cases of Temple–Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes Shen, Joseph J. Shen, Joseph J. Less Clinical Dysmorphology. 24(2):55-60, April 2015. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Open
Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations Osiak, Lucas; Saraiva, João G.; Mestre, Viviane de F.; More Osiak, Lucas; Saraiva, João G.; Mestre, Viviane de F.; Ferrari, Lígia S.L.; Paiva, Wagner J.M.; de Lima, Renata L.L.F.; Salles, Maria J.S. Less Clinical Dysmorphology. 29(3):165-166, July 2020. Favorites PDF Get Content & Permissions Free
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect Hadzsiev, Kinga; Gyorsok, Zsuzsanna; Till, Agnes; More Hadzsiev, Kinga; Gyorsok, Zsuzsanna; Till, Agnes; Czakó, Márta; Bartsch, Oliver Less Clinical Dysmorphology. 28(3):135-139, July 2019. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Open
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants Lam, Zena; Albaba, Shadi; Study, DDD; More Lam, Zena; Albaba, Shadi; Study, DDD; Balasubramanian, Meena Less Clinical Dysmorphology. 29(1):10-16, January 2020. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Free
Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome Golan-Tripto, Inbal; Ling, Eduard; Hershkovitz, Eli; More Golan-Tripto, Inbal; Ling, Eduard; Hershkovitz, Eli; Fruchtman, Yariv; Hazan, Guy Less Clinical Dysmorphology. 29(1):46-48, January 2020. Favorites PDF Get Content & Permissions Free
Xq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature Turchi, Giulia; Bernardo, Pia; Consales, Alessandro; More Turchi, Giulia; Bernardo, Pia; Consales, Alessandro; Bilo, Leonilda; Coppola, Antonietta Less Clinical Dysmorphology. 29(2):90-96, April 2020. Favorites PDF Get Content & Permissions Buy
Down syndrome with partial trisomy of chromosome 21 because of a de-novo unbalanced translocation t(13;21)(q10;q22) Maciejewski, Emilie; Vigneron, Jacqueline; Lambert, Laetitia; More Maciejewski, Emilie; Vigneron, Jacqueline; Lambert, Laetitia; Bonnet, Céline; Hascoët, Jean-Michel Less Clinical Dysmorphology. 21(4):200-203, October 2012. Favorites PDF Get Content & Permissions Buy
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children Yu, Kris P.T.; Luk, Ho-Ming; Gordon, Christopher T.; More Yu, Kris P.T.; Luk, Ho-Ming; Gordon, Christopher T.; Fung, Genevieve; Oufadem, Myriam; Garcia-Barcelo, Maria M.; Amiel, Jeanne; Chung, Brian H.Y.; Lo, Ivan F.M.; Tiong, Yang Tan Less Clinical Dysmorphology. 27(2):31-35, April 2018. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature Upadhyai, Priyanka; Amiri, Eram Fatima; Guleria, Vishal Singh; More Upadhyai, Priyanka; Amiri, Eram Fatima; Guleria, Vishal Singh; Bielas, Stephanie L.; Girisha, Katta Mohan; Shukla, Anju Less Clinical Dysmorphology. 29(3):127-131, July 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases Vendramini-Pittoli, Siulan; Guion-Almeida, Maria L.; Santos, Juliana M.; More Vendramini-Pittoli, Siulan; Guion-Almeida, Maria L.; Santos, Juliana M.; Garcia Júnior, Silvio M.; Yoshida, Mauricio M.; Richieri-Costa, Antonio; Kokitsu-Nakata, Nancy M. Less Clinical Dysmorphology. 24(4):144-150, October 2015. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity Hyder, Zerin; Fairclough, Adele; Douzgou, Sofia Hyder, Zerin; Fairclough, Adele; Douzgou, Sofia Less Clinical Dysmorphology. 28(3):129-134, July 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Pierpont syndrome: report of a new patient Kahlert, Anne-Karin; Weidensee, Sabine; Mackenroth, Luisa; More Kahlert, Anne-Karin; Weidensee, Sabine; Mackenroth, Luisa; Porrmann, Joseph; Rump, Andreas; Di Donato, Nataliya; Schröck, Evelin; Tzschach, Andreas Less Clinical Dysmorphology. 26(4):205-208, October 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type Narumi-Kishimoto, Yoko; Ozawa, Hiroshi; Yanagi, Kumiko; More Narumi-Kishimoto, Yoko; Ozawa, Hiroshi; Yanagi, Kumiko; Kawai, Tomoko; Okamura, Koji; Hata, Kenichiro; Kaname, Tadashi; Matsubara, Yoichi Less Clinical Dysmorphology. 29(4):186-188, October 2020. Favorites PDF Get Content & Permissions Buy
Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature Zherebtsov, Monica M.; Klein, Rachel T.; Aviv, Hana; More Zherebtsov, Monica M.; Klein, Rachel T.; Aviv, Hana; Toruner, Gokce A.; Hanna, Nazeeh N.; Brooks, Susan Sklower Less Clinical Dysmorphology. 16(3):135-140, July 2007. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family Hayat, Amir; Khan, Atif Ahmad; Rauf, Abdur; More Hayat, Amir; Khan, Atif Ahmad; Rauf, Abdur; Khan, Saad Ullah; Hussain, Shabir; Ullah, Asmat; Ahmad, Wasim; Shams, Sulaiman; Khan, Bushra Less Clinical Dysmorphology. 29(1):17-23, January 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant Geckinli, Bilgen Bilge; Alavanda, Ceren; Arslan Ates, Esra; More Geckinli, Bilgen Bilge; Alavanda, Ceren; Arslan Ates, Esra; Yildirim, Ozlem; Arman, Ahmet Less Clinical Dysmorphology. : April 08, 2022 Favorites PDF Get Content & Permissions Buy PAP
Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy Cratsenberg, Drew M.; Winningham, Peter J.; Starr, Lois J. Cratsenberg, Drew M.; Winningham, Peter J.; Starr, Lois J. Less Clinical Dysmorphology. 30(3):159-163, July 2021. Favorites PDF Get Content & Permissions Buy
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants Moirangthem, Amita; Saxena, Deepti; Masih, Suzena; More Moirangthem, Amita; Saxena, Deepti; Masih, Suzena; Shambhavi, Arya; Nilay, Mayank; Phadke, Shubha R. Less Clinical Dysmorphology. 31(2):59-65, April 2022. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Skull defects, alopecia and distinctive facies: a new syndrome? Kariminejad, Ariana; Bozorgmehr, Bita; Ashrafi, Mahmoud R.; More Kariminejad, Ariana; Bozorgmehr, Bita; Ashrafi, Mahmoud R.; Kariminejad, Mohamad Hasan Less Clinical Dysmorphology. 17(3):203-205, July 2008. Favorites PDF Get Content & Permissions Buy
Phenotypic variability in Muenke syndrome—observations from five Danish families Öwall, Louise; Kreiborg, Sven; Dunø, Morten; More Öwall, Louise; Kreiborg, Sven; Dunø, Morten; Hermann, Nuno V.; Darvann, Tron A.; Hove, Hanne Less Clinical Dysmorphology. 29(1):1-9, January 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case? Sabir, Ataf H.; Singhal, Juhi; Man, Jessica; More Sabir, Ataf H.; Singhal, Juhi; Man, Jessica; Cooper, Nicola; Cheung, Moira; Irving, Melita Less Clinical Dysmorphology. 31(2):84-90, April 2022. Favorites PDF Get Content & Permissions Buy
RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature Thompson, Danielle; Patrick-Esteve, Jessica; Surcouf, Jeffrey W.; More Thompson, Danielle; Patrick-Esteve, Jessica; Surcouf, Jeffrey W.; Rivera, Dana; Castellanos, Bianca; Desai, Pooja; Lilje, Christian; Lacassie, Yves; Marble, Michael; Zambrano, Regina Less Clinical Dysmorphology. 26(4):195-199, October 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination do Rosario, Michelle C.; Kaur, Parneet; Girisha, Katta Mohan; More do Rosario, Michelle C.; Kaur, Parneet; Girisha, Katta Mohan; Bielas, Stephanie; Shukla, Anju Less Clinical Dysmorphology. : April 19, 2022 Favorites PDF Get Content & Permissions Buy SDC PAP
Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene Matuszewska, Karolina E.; Badura-Stronka, Magdalena; Smigiel, Robert; More Matuszewska, Karolina E.; Badura-Stronka, Magdalena; Smigiel, Robert; Cabala, Magdalena; Biernacka, Anna; Kosinska, Joanna; Rydzanicz, Malgorzata; Winczewska-Wiktor, Anna; Sasiadek, Maria; Latos-Bielenska, Anna; Zemojtel, Tomasz; Ploski, Rafal Less Clinical Dysmorphology. 27(2):49-52, April 2018. Favorites PDF Get Content & Permissions Buy
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy Papa, Filomena T.; Mancardi, Maria M.; Frullanti, Elisa; More Papa, Filomena T.; Mancardi, Maria M.; Frullanti, Elisa; Fallerini, Chiara; Della Chiara, Veronica; Zalba-Jadraque, Laura; Baldassarri, Margherita; Gamucci, Alessandra; Mari, Francesca; Veneselli, Edvige; Renieri, Alessandra Less Clinical Dysmorphology. 27(1):18-20, January 2018. Favorites PDF Get Content & Permissions Buy
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype Buonuomo, Paola Sabrina; Mastrogiorgio, Gerarda; Alfieri, Paolo; More Buonuomo, Paola Sabrina; Mastrogiorgio, Gerarda; Alfieri, Paolo; Terracciano, Alessandra; Cesario, Claudia; Rana, Ippolita; Macchiaiolo, Marina; Veronika Gonfiantini, Michaela; Vecchio, Davide; Cristina Digilio, Maria; Lisa Dentici, Maria; Cumbo, Francesca; Novelli, Antonio; Bartuli, Andrea Less Clinical Dysmorphology. 31(2):74-78, April 2022. Favorites PDF Get Content & Permissions Buy
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings Pickwick, Charlotte; Callewaert, Bert; van Dijk, Fleur; More Pickwick, Charlotte; Callewaert, Bert; van Dijk, Fleur; Harris, Juliette; Wakeling, Emma; Hay, Eleanor; Yeo, Mildrid; Chakrapani, Anupam; Baptista, Julia; Moore, Sandra; Yoong, Michael; Chatterjee, Fiona; Ghali, Neeti Less Clinical Dysmorphology. 31(2):66-70, April 2022. Favorites PDF Get Content & Permissions Buy
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion Pelle, Alessandra; Modena, Piergiorgio; Cavallini, Anna; More Pelle, Alessandra; Modena, Piergiorgio; Cavallini, Anna; Selicorni, Angelo Less Clinical Dysmorphology. 29(2):97-100, April 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A newborn diagnosed with van Maldergem syndrome Ulubas Isik, Dilek; Unal, Sezin; Erol, Sara; More Ulubas Isik, Dilek; Unal, Sezin; Erol, Sara; Arslan, Zehra; Bas, Ahmet Y.; Demirel, Nihal Less Clinical Dysmorphology. 27(2):63-65, April 2018. Favorites PDF Get Content & Permissions Buy
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature Narayanan, Dhanya Lakshmi; Somashekar, Puneeth H; Majethia, Purvi; More Narayanan, Dhanya Lakshmi; Somashekar, Puneeth H; Majethia, Purvi; Shukla, Anju Less Clinical Dysmorphology. 31(1):6-10, January 2022. Abstract Abstract Favorites PDF Get Content & Permissions Buy SDC
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported Fukuhara, Yasuyuki; Cho, Sung Y.; Miyazaki, Osamu; More Fukuhara, Yasuyuki; Cho, Sung Y.; Miyazaki, Osamu; Hattori, Atsushi; Seo, Joo-Hyun; Mashima, Ryuichi; Kosuga, Motomichi; Fukami, Maki; Jin, Dong-Kyu; Okuyama, Torayuki; Nishimura, Gen Less Clinical Dysmorphology. 28(1):26-29, January 2019. Favorites PDF Get Content & Permissions Open
Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families Dwarakanathan, Abhilash; Bhat, Meenakshi; GN, Sanjeeva; More Dwarakanathan, Abhilash; Bhat, Meenakshi; GN, Sanjeeva; Shetty, Swathi Less Clinical Dysmorphology. 24(4):159-162, October 2015. Favorites PDF Get Content & Permissions Buy
Expansion of phenotype of DDX3X syndrome: six new cases Beal, Bryony; Hayes, Ian; McGaughran, Julie; More Beal, Bryony; Hayes, Ian; McGaughran, Julie; Amor, David J.; Miteff, Christina; Jackson, Victoria; van Reyk, Olivia; Subramanian, Gopinath; Hildebrand, Michael S.; Morgan, Angela T.; Goel, Himanshu Less Clinical Dysmorphology. 28(4):169-174, October 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy SDC
Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimester Low, Karen J.; Abdel-Fattah, Sherif; Barton, John; More Low, Karen J.; Abdel-Fattah, Sherif; Barton, John; Crowne, Elizabeth C.; Denbow, Mark; Lerpiniere, Nicola; Burvill-Holmes, Lisa; Scurr, Ingrid Less Clinical Dysmorphology. 26(2):107-109, April 2017. Favorites PDF Get Content & Permissions Buy
X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing McDermott, Helen; Garikapati, Vidya; Baptista, Júlia; More McDermott, Helen; Garikapati, Vidya; Baptista, Júlia; Gowda, Harsha; Naik, Swati Less Clinical Dysmorphology. 31(2):101-105, April 2022. Favorites PDF Get Content & Permissions Buy
TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings Bevilacqua, Florencia; Alberto, Guillermo; Duarte, Santiago Pablo; More Bevilacqua, Florencia; Alberto, Guillermo; Duarte, Santiago Pablo; Serra, Marina; Basterra, Julieta; Espeche, Lucía; Cerretini, Roxana Inés; Solari, Andrea Paula Less Clinical Dysmorphology. 30(1):22-26, January 2021. Favorites PDF Get Content & Permissions Buy
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families Radhakrishnan, Periyasamy; Jacob, Prince; Nayak, Shalini S.; More Radhakrishnan, Periyasamy; Jacob, Prince; Nayak, Shalini S.; Gowrishankar, Kalpana; Prakash Soni, Jai; Shukla, Anju; Girisha, Katta M. Less Clinical Dysmorphology. 29(3):123-126, July 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy SDC
3q27.3 Microdeletion syndrome: further delineation of the second region of overlap and atopic dermatitis as a phenotypic feature Jewell, Rosalyn; Eng, Bennett; Coates, Andrea; More Jewell, Rosalyn; Eng, Bennett; Coates, Andrea; Hewitt, Sarah; Hobson, Emma Less Clinical Dysmorphology. 26(3):154-156, July 2017. Favorites PDF Get Content & Permissions Buy
Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding Kilci, Fatih; Hürmüzlü-Kozler, Selen; Jones, Jeremy; More Kilci, Fatih; Hürmüzlü-Kozler, Selen; Jones, Jeremy; Doğan, Kenan; Cerrah Güneş, Meltem; Çizmecioğlu-Jones, Filiz Mine Less Clinical Dysmorphology. 31(1):42-44, January 2022. Favorites PDF Get Content & Permissions Buy
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly Xu, Shuqin; Zhang, Wenqian; Zhou, Rui; More Xu, Shuqin; Zhang, Wenqian; Zhou, Rui; Huang, Hui; Chen, Wei; Xiang, Wenhao; Liu, Limei; Song, Jieping Less Clinical Dysmorphology. 31(1):1-5, January 2022. Abstract Abstract Favorites PDF Get Content & Permissions Buy
SOX11-related syndrome: report on a new case and review Wakim, Victor; Nair, Pratibha; Delague, Valérie; More Wakim, Victor; Nair, Pratibha; Delague, Valérie; Bizzari, Sami; Al-Ali, Mahmoud Taleb; Castro, Christel; Gambarini, Alicia; El-Hayek, Stephany; Megarbane, André Less Clinical Dysmorphology. 30(1):44-49, January 2021. Favorites PDF Get Content & Permissions Buy
TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome Si-Min Ng, Pamela; Khan, Shazia; Lim, Jiin Ying; More Si-Min Ng, Pamela; Khan, Shazia; Lim, Jiin Ying; Chew-Yin Goh, Jasmine; Lin, Grace Xiulin; Wei, Heming; Tan, Ene Choo; Jamuar, Saumya Shekhar Less Clinical Dysmorphology. 28(4):215-218, October 2019. Favorites PDF Get Content & Permissions Buy
A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype–phenotype correlation Lallar, Meenakshi; Srivastava, Priyanka; Phadke, Shubha R. Lallar, Meenakshi; Srivastava, Priyanka; Phadke, Shubha R. Less Clinical Dysmorphology. 27(4):142-144, October 2018. Favorites PDF Get Content & Permissions Buy
Phenotypic delineation of a 12q21 deletion syndrome McKenna, Caoimhe S.; Saxena, Nivedita; Dabir, Tabib A; More McKenna, Caoimhe S.; Saxena, Nivedita; Dabir, Tabib A; Jones, June; Smith, Geoff; Morrison, Patrick J Less Clinical Dysmorphology. 28(4):198-201, October 2019. Favorites PDF Get Content & Permissions Buy
Myhre syndrome: a report of six Chinese patients and literature review Yu, Kris Pui-Tak; Luk, Ho-Ming; Chung, Brian Hon-Yin; More Yu, Kris Pui-Tak; Luk, Ho-Ming; Chung, Brian Hon-Yin; Lo, Ivan Fai-Man Less Clinical Dysmorphology. 28(3):143-148, July 2019. Favorites PDF Get Content & Permissions Buy
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype: Note of concern Less Clinical Dysmorphology. 22(1):44, January 2013. Favorites PDF Get Content & Permissions Buy
Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3 Kuipers, Bart C.W.; Vulto-van Silfhout, Anneke T.; Marcelis, Carlo; More Kuipers, Bart C.W.; Vulto-van Silfhout, Anneke T.; Marcelis, Carlo; Pfundt, Rolph; de Leeuw, Nicole; de Vries, Bert B.A. Less Clinical Dysmorphology. 22(1):18-21, January 2013. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Bilateral hand malformations with absence of carpal bones with fusion of proximal metacarpals Gurav, Ravindra Muralidhar; Patil, Annasaheb B. Gurav, Ravindra Muralidhar; Patil, Annasaheb B. Less Clinical Dysmorphology. 21(1):56-57, January 2012. Favorites PDF Get Content & Permissions Buy
Chondrodysplasia punctata: a clinical diagnostic and radiological review Irving, Melita D.; Chitty, Lyn S.; Mansour, Sahar; More Irving, Melita D.; Chitty, Lyn S.; Mansour, Sahar; Hall, Christine M. Less Clinical Dysmorphology. 17(4):229-241, October 2008. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Facial profile and additional features in fetuses with trisomy 21 Radhakrishnan, Periyasamy; Nayak, Shalini S.; Shukla, Anju; More Radhakrishnan, Periyasamy; Nayak, Shalini S.; Shukla, Anju; Girisha, Katta M. Less Clinical Dysmorphology. 27(4):126-129, October 2018. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Branchio–oculo–facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality Titheradge, Hannah L.; Patel, Chirag; Ragge, Nicola K. Titheradge, Hannah L.; Patel, Chirag; Ragge, Nicola K. Less Clinical Dysmorphology. 24(1):13-16, January 2015. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A proximal 300kb deletion further defining critical regions in 4q25 syndrome Hegarty, Mairead; Morrison, Patrick J. Hegarty, Mairead; Morrison, Patrick J. Less Clinical Dysmorphology. 30(3):137-138, July 2021. Favorites PDF Get Content & Permissions Buy
A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome Guzoglu, Nilufer; Aslan, Mustafa K.; Gunay, Yasemin D.; More Guzoglu, Nilufer; Aslan, Mustafa K.; Gunay, Yasemin D.; Atasoy, Pinar; Ceylaner, Serdar; Aliefendioglu, Didem Less Clinical Dysmorphology. 29(3):152-154, July 2020. Favorites PDF Get Content & Permissions Buy
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling? Jezela-Stanek, Aleksandra; Pokora, Paulina; Młynek, Marlena; More Jezela-Stanek, Aleksandra; Pokora, Paulina; Młynek, Marlena; Smyk, Marta; Ziemkiewicz, Kamila; Różdżyńska-Świątkowska, Agnieszka; Tylki-Szymańska, Anna Less Clinical Dysmorphology. 30(2):76-82, April 2021. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Open SDC
The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations Bayat, Allan; Kerr, Bronwyn; Douzgou, Sofia; More Bayat, Allan; Kerr, Bronwyn; Douzgou, Sofia; the DDD Studyd Less Clinical Dysmorphology. 26(4):247-251, October 2017. Favorites PDF Get Content & Permissions Buy
A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type Kalaoglu, Elif Ece; Turkyilmaz, Ayberk; Geckinli, Bilgen Bilge; More Kalaoglu, Elif Ece; Turkyilmaz, Ayberk; Geckinli, Bilgen Bilge; Arslan Ates, Esra; Mentes, Ali; Arman, Ahmet Less Clinical Dysmorphology. 30(3):150-153, July 2021. Favorites PDF Get Content & Permissions Buy
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome Aerden, Mio; Vallaeys, Lore; Holvoet, Maureen; More Aerden, Mio; Vallaeys, Lore; Holvoet, Maureen; De Waele, Liesbeth; Van Den Bogaert, Kris; Devriendt, Koen Less Clinical Dysmorphology. 30(3):121-124, July 2021. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A further case of Skraban-Deardorff syndrome and review of the literature Shirley Cheng, Sze Wing; Luk, Ho-Ming; Lo, Fai Man Ivan Shirley Cheng, Sze Wing; Luk, Ho-Ming; Lo, Fai Man Ivan Less Clinical Dysmorphology. 31(2):79-83, April 2022. Favorites PDF Get Content & Permissions Buy
Congenital multisegmental lymphatic dysplasia with systemic involvement: a case report Kaymak, Suna; Kuloglu, Zarife; Çobanoglu, Nazan; More Kaymak, Suna; Kuloglu, Zarife; Çobanoglu, Nazan; Utine, Gülen E.; Kansu, Aydan Less Clinical Dysmorphology. 25(4):174-177, October 2016. Favorites PDF Get Content & Permissions Buy
Abraham Lincoln's marfanoid mother: the earliest known case of multiple endocrine neoplasia type 2B? Sotos, John G. Sotos, John G. Less Clinical Dysmorphology. 21(3):131-136, July 2012. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero Neas, Katherine R.; Chia, Nicole; Clarke, Melanie; More Neas, Katherine R.; Chia, Nicole; Clarke, Melanie; Peters, Gregory; Adés, Lesley C. Less Clinical Dysmorphology. 12(3):179-181, July 2003. Abstract Abstract Favorites PDF Get Content & Permissions Buy
KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant Sabir, Ataf H; Sheikh, Jameela; Gowda, Vasantha; More Sabir, Ataf H; Sheikh, Jameela; Gowda, Vasantha; Wallis, Colin; Singham, Surendra; Durve, Dipalee; Cocca, Alessandra; Holder-Espinasse, Muriel; Irving, Melita Less Clinical Dysmorphology. 30(3):142-146, July 2021. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1) Sabir, Ataf H.; Singhal, Juhi; Man, Jessica; More Sabir, Ataf H.; Singhal, Juhi; Man, Jessica; Mensah, Nana Ekuntan; Ahn, Joo Wook; Cheung, Moira S.; Irving, Melita Less Clinical Dysmorphology. 30(3):154-158, July 2021. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement Dursun, Ali; Ozgul, R. Koksal; Soydas, Asli; More Dursun, Ali; Ozgul, R. Koksal; Soydas, Asli; Tugrul, Tugba; Gurgey, Aytemiz; Celiker, Alpay; Barst, Robyn J.; Knowles, James A.; Mahesh, Mansukhani; Morse, Jane H. Less Clinical Dysmorphology. 18(1):19-23, January 2009. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Occipital encephalocele and hypoplastic thumb: a nonrandom association of malformations Carvalho, Daniel R.; Rizzo, Isabela M.; Farage, Luciano; More Carvalho, Daniel R.; Rizzo, Isabela M.; Farage, Luciano; Barros, Araci L.C.; Speck-Martins, Carlos E. Less Clinical Dysmorphology. 17(4):273-274, October 2008. Favorites PDF Get Content & Permissions Buy
Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups Ranganath, Priya; Ranganath, Prajnya; Vineeth, V.S.; More Ranganath, Priya; Ranganath, Prajnya; Vineeth, V.S.; Dalal, Ashwin; Patil, Siddaramappa J. Less Clinical Dysmorphology. 30(4):209-212, October 2021. Favorites PDF Get Content & Permissions Buy
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type Smithson, Sarah F.; Grier, David; Hall, Christine M. Smithson, Sarah F.; Grier, David; Hall, Christine M. Less Clinical Dysmorphology. 18(1):31-35, January 2009. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Beaulieu–Boycott–Innes syndrome: an intellectual disability syndrome with characteristic facies Casey, Jillian; Jenkinson, Allan; Magee, Alex; More Casey, Jillian; Jenkinson, Allan; Magee, Alex; Ennis, Sean; Monavari, Ahmad; Green, Andrew; Lynch, Sally A.; Crushell, Ellen; Hughes, Joanne Less Clinical Dysmorphology. 25(4):146-151, October 2016. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Griscelli syndrome type 1: a report of two cases and review of the literature Thomas, Ellen R.; Walker, Lisa J.; Pullaperuma, Sunil; More Thomas, Ellen R.; Walker, Lisa J.; Pullaperuma, Sunil; Cooper, Beatrice; Brueton, Louise A.; Basile, Geneviéve de Saint; Suri, Mohnish; Brady, Angela F. Less Clinical Dysmorphology. 18(3):145-148, July 2009. Favorites PDF Get Content & Permissions Buy
Umbilical pigmentation in Peutz–Jeghers syndrome Morrison, Peter T.; Donnelly, Deirdre E.; Morrison, Patrick J. Morrison, Peter T.; Donnelly, Deirdre E.; Morrison, Patrick J. Less Clinical Dysmorphology. 23(3):114-115, July 2014. Favorites PDF Get Content & Permissions Buy
Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development Ozer, Leyla; Unsal, Evrim; Aktuna, Suleyman; More Ozer, Leyla; Unsal, Evrim; Aktuna, Suleyman; Baltaci, Volkan; Celikkol, Pelin; Akyigit, Fatma; Sen, Askin; Ayvaz, Ozge; Balci, Sevim Less Clinical Dysmorphology. 25(3):91-97, July 2016. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Neuroblastoma, maternal valproic acid use, in-vitro fertilization and family history of mosaic chromosome 22: coincidence or causal relationship? Merks, Johannes H.; Ceelie, Nicolaas; Caron, Huib N.; More Merks, Johannes H.; Ceelie, Nicolaas; Caron, Huib N.; Hennekam, Raoul C. Less Clinical Dysmorphology. 13(3):197-198, July 2004. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis Kulkarni, Nainesha; Lloyd, Ian C.; Ashworth, Jane; More Kulkarni, Nainesha; Lloyd, Ian C.; Ashworth, Jane; Biswas, Susmito; Black, Graeme C.M.; Clayton-Smith, Jill; NIHR BioResource Consortium Less Clinical Dysmorphology. 28(4):184-189, October 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Interstitial deletion of chromosome 2p16.2p21 Sanders, S. R.; Dawson, A. J.; Vust, A.; More Sanders, S. R.; Dawson, A. J.; Vust, A.; Hryshko, M.; Tomiuk, M.; Riordan, D.; Prasad, C. Less Clinical Dysmorphology. 12(3):183-185, July 2003. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome Pelc, Magdalena; Ciara, Elzbieta; Jezela-Stanek, Aleksandra; More Pelc, Magdalena; Ciara, Elzbieta; Jezela-Stanek, Aleksandra; Kugaudo, Monika; Cieslikowska, Agata; Jurkiewicz, Dorota; Janeczko, Magdalena; Chrzanowska, Krystyna; Krajewska-Walasek, Malgorzata; Skórka, Agata Less Clinical Dysmorphology. 26(2):83-90, April 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature Riccardi, Florence; Urquhart, Jill; McCullagh, Gary; More Riccardi, Florence; Urquhart, Jill; McCullagh, Gary; Lawrence, Peter; Douzgou, Sofia Less Clinical Dysmorphology. 28(2):66-70, April 2019. Favorites PDF Get Content & Permissions Buy SDC
Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling Shukla, Anju; Phadke, Shubha R. Shukla, Anju; Phadke, Shubha R. Less Clinical Dysmorphology. 24(3):118-121, July 2015. Favorites PDF Get Content & Permissions Buy
Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin–Lowry syndrome in a family with variable features and diabetes 2 Touma Boulos, Marianne; Moukarzel, Adib; Yammine, Tony; More Touma Boulos, Marianne; Moukarzel, Adib; Yammine, Tony; Salem, Nabiha; Souaid, Mirna; Farra, Chantal Less Clinical Dysmorphology. 30(1):32-35, January 2021. Favorites PDF Get Content & Permissions Buy
Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature Bhatia, Neha S.; Lim, Jiin-Ying; Brett, Maggie S.; More Bhatia, Neha S.; Lim, Jiin-Ying; Brett, Maggie S.; Tan, Ene-Choo; Law, Hai Yang; Thomas, Biju; Choo, Jonathan; Lai, Angeline H.M.; Jamuar, Saumya S. Less Clinical Dysmorphology. 28(1):53-56, January 2019. Favorites PDF Get Content & Permissions Buy
Clinical course over five decades of a woman carrying 16p13.3 microduplication Pibalyart, Sarunpong; Trachoo, Objoon Pibalyart, Sarunpong; Trachoo, Objoon Less Clinical Dysmorphology. 26(4):217-220, October 2017. Favorites PDF Get Content & Permissions Buy
Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings Vianna, Fernanda S.L.; Schüler-Faccini, Lavínia; Leite, Julio César L.; More Vianna, Fernanda S.L.; Schüler-Faccini, Lavínia; Leite, Julio César L.; de Sousa, Silvia H.C.; da Costa, Lea Márcia M.; Dias, Murilo F.; Morelo, Elaine F.; Doriqui, Maria Juliana R.; Maximino, Claudia M.; Sanseverino, Maria Teresa V. Less Clinical Dysmorphology. 22(2):59-63, April 2013. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A de-novo 15q24.2 deletion involving SIN3A is associated with emotional, behavioural, motor problems and hypersensitivity in a girl with above average intelligence and typical facial features. Sleyp, Yoeri; Swillen, Ann; Van Den Bogaert, Kris; More Sleyp, Yoeri; Swillen, Ann; Van Den Bogaert, Kris; Massa, Guy; Aerssens, Peter; Peeters, Hilde Less Clinical Dysmorphology. 29(4):210-213, October 2020. Favorites PDF Get Content & Permissions Buy
6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability Ohashi, Ikuko; Kuroda, Yukiko; Enomoto, Yumi; More Ohashi, Ikuko; Kuroda, Yukiko; Enomoto, Yumi; Murakami, Hiroaki; Masuno, Mitsuo; Kurosawa, Kenji Less Clinical Dysmorphology. 30(3):139-141, July 2021. Favorites PDF Get Content & Permissions Buy
Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation Ocansey, Sharon; Pullen, Debbie; Atkinson, Patricia; More Ocansey, Sharon; Pullen, Debbie; Atkinson, Patricia; Clarke, Antonia; Hadonou, Medard; Crosby, Charlene; Short, John; Lloyd, Ian Christopher; Smedley, Damian; Assunta, Albanese; Genomics England Research Consortium; Shah, Pratik; McEntagart, Meriel Less Clinical Dysmorphology. 31(1):11-17, January 2022. Abstract Abstract Favorites PDF Get Content & Permissions Buy
SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature Kanani, Farah; Study, DDD; Balasubramanian, Meena Kanani, Farah; Study, DDD; Balasubramanian, Meena Less Clinical Dysmorphology. 27(4):113-115, October 2018. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter Haar Syndrome Türkyilmaz, Ayberk; Sager, Safiye Gunes; Topcu, Bahtisen; More Türkyilmaz, Ayberk; Sager, Safiye Gunes; Topcu, Bahtisen; Kaplan, Aysin Tuba; Günbey, Hediye Pinar; Akin, Yasemin Less Clinical Dysmorphology. 31(1):45-49, January 2022. Favorites PDF Get Content & Permissions Buy
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies Mishra, Shivani; Girisha, Katta Mohan; Shukla, Anju Mishra, Shivani; Girisha, Katta Mohan; Shukla, Anju Less Clinical Dysmorphology. 30(1):1-5, January 2021. Abstract Abstract Favorites PDF Get Content & Permissions Buy SDC
Extensive Mongolian spots in 4p16.3 deletion (Wolf–Hirschhorn syndrome) Ziegler, Alban; Guichet, Agnès; Pinson, Lucille; More Ziegler, Alban; Guichet, Agnès; Pinson, Lucille; Barth, Magalie; Levade, Thierry; Bonneau, Dominique; Colin, Estelle Less Clinical Dysmorphology. 23(3):109-110, July 2014. Favorites PDF Get Content & Permissions Buy
Recognizing vascular Ehlers–Danlos syndrome (type IV) in the newborn McKenna, Caoimhe; Vandersteen, Anthony; Wakeling, Emma; More McKenna, Caoimhe; Vandersteen, Anthony; Wakeling, Emma; Pope, Francis M.; Ghali, Neeti Less Clinical Dysmorphology. 26(1):50-57, January 2017. Favorites PDF Get Content & Permissions Buy
Dysmorphologic assessment in 115 Mayer–Rokitansky–Küster–Hauser patients Lalatta, Faustina; Motta, Francesca; Restelli, Elisa; More Lalatta, Faustina; Motta, Francesca; Restelli, Elisa; Bellini, Martina; Miozzo, Monica; Gervasini, Cristina; Dallapiccola, Bruno; Gentilin, Barbara; Fedele, Luigi Less Clinical Dysmorphology. 24(3):95-101, July 2015. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B Habib, Rabia; Amin-ud-din, Muhammad; Ahmad, Wasim Habib, Rabia; Amin-ud-din, Muhammad; Ahmad, Wasim Less Clinical Dysmorphology. 22(2):47-50, April 2013. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Two novel variants and follow-up findings in four children with Bloom syndrome from two families Kasap, Busra; Guclu-Geyik, Filiz; Uludag Alkaya, Dilek; More Kasap, Busra; Guclu-Geyik, Filiz; Uludag Alkaya, Dilek; Cetin, Güven; Tuysuz, Beyhan Less Clinical Dysmorphology. 31(1):31-35, January 2022. Favorites PDF Get Content & Permissions Buy
A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability Özmansur, Elif Nurdan; Pedük, Yakup; Gümüş, Hakan; More Özmansur, Elif Nurdan; Pedük, Yakup; Gümüş, Hakan; Çağlayan, Ahmet Okay; Per, Hüseyin Less Clinical Dysmorphology. 31(1):36-38, January 2022. Favorites PDF Get Content & Permissions Buy
Mild phenotype of a large partial 13q trisomy Krygier, Magdalena; Lipska-Zietkiewicz, Beata S.; Koczkowska, Magdalena; More Krygier, Magdalena; Lipska-Zietkiewicz, Beata S.; Koczkowska, Magdalena; Wierzba, Jolanta; Limon, Janusz Less Clinical Dysmorphology. 23(4):155-157, October 2014. Favorites PDF Get Content & Permissions Buy
Hajdu–Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation Descartes, Maria; Rojnueangnit, Kitiwan; Cole, Laura; More Descartes, Maria; Rojnueangnit, Kitiwan; Cole, Laura; Sutton, Amelia; Morgan, Sarah L.; Patry, Lysanne; Samuels, Mark E. Less Clinical Dysmorphology. 23(3):88-94, July 2014. Favorites PDF Get Content & Permissions Buy
2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia Bermudez-Wagner, Karla; Jeng, Linda J.B.; Slavotinek, Anne M.; More Bermudez-Wagner, Karla; Jeng, Linda J.B.; Slavotinek, Anne M.; Sanford, Erica F. Less Clinical Dysmorphology. 22(1):22-24, January 2013. Favorites PDF Get Content & Permissions Buy
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV Radhakrishnan, Periyasamy; Moirangthem, Amita; Nayak, Shalini S.; More Radhakrishnan, Periyasamy; Moirangthem, Amita; Nayak, Shalini S.; Shukla, Anju; Mathew, Mary; Girisha, Katta M. Less Clinical Dysmorphology. 28(1):17-21, January 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy SDC
