Klippel-Feil syndrome: a review of the literature Frikha, Rim Frikha, Rim Less Clinical Dysmorphology. 29(1):35-37, January 2020. Abstract Abstract Favorite PDF 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 Favorite PDF 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. Favorite PDF Permissions Free
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 Favorite PDF Permissions Go to Full Text of this Article Free
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients Poole, Rebecca L.; Bijlsma, Emilia K.; Houge, Gunnar; More Poole, Rebecca L.; Bijlsma, Emilia K.; Houge, Gunnar; Jones, Gabriela; Mikštienė, Violeta; Preikšaitienė, Eglė; Thompson, Louise; Tatton-Brown, Katrina Less Clinical Dysmorphology. 32(2):49-54, April 2023. Abstract Abstract Favorite PDF Permissions Buy SDC
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature Stefanova, Irina; Jenderny, Jutta; Kaminsky, Elke; More Stefanova, Irina; Jenderny, Jutta; Kaminsky, Elke; Mannhardt, Anca; Meinecke, Peter; Grozdanova, Liliana; Gillessen-Kaesbach, Gabriele Less Clinical Dysmorphology. 19(3):123-127, July 2010. Abstract Abstract Favorite PDF Permissions Buy
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. Favorite PDF Permissions Buy
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature Demir, Engin; Tuna Kirsaçlioğlu, Ceyda; Saltik-Temizel, İnci Nur; More Demir, Engin; Tuna Kirsaçlioğlu, Ceyda; Saltik-Temizel, İnci Nur; Ürel-Demir, Gizem; Karaosmanoğlu, Beren; Taşkiran, Ekim Zihni; Şimşek-Kiper, Pelin Özlem; Utine, Gülen Eda; Kuloğlu, Zarife; Kansu, Aydan Less Clinical Dysmorphology. 32(2):88-91, April 2023. Favorite PDF Permissions Buy
Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review Odeh, Osama; Barqawi, Tawfiq; Rashid, Hussein; More Odeh, Osama; Barqawi, Tawfiq; Rashid, Hussein; Almashhdi, Safa; Shboul, Mohammad Less Clinical Dysmorphology. 31(3):157-161, July 2022. Favorite PDF Permissions Buy
Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant Pan, Xiang; Lu, Jun Pan, Xiang; Lu, Jun Less Clinical Dysmorphology. 32(1):29-31, January 2023. Favorite PDF Permissions Open
Restrictive dermopathy due to ZMPSTE24 deficiency Ververi, Athina; Babatseva, Evgeniya; Mitsiakos, Georgios; More Ververi, Athina; Babatseva, Evgeniya; Mitsiakos, Georgios; Karagiannopoulou, Georgia; Malakozi, Marina; Patsatsi, Aikaterini; Diamanti, Elisavet; Garg, Abhimanyu Less Clinical Dysmorphology. 32(2):92-94, April 2023. Favorite PDF Permissions Buy
Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum Hamilton, Mark J.; Newbury-Ecob, Ruth; Holder-Espinasse, Muriel; More Hamilton, Mark J.; Newbury-Ecob, Ruth; Holder-Espinasse, Muriel; Yau, Shu; Lillis, Suzanne; Hurst, Jane A.; Clement, Emma; Reardon, William; Joss, Shelagh; Hobson, Emma; Blyth, Moira; Al-Shehhi, Maryam; Lynch, Sally A.; Suri, Mohnish; DDD Study Less Clinical Dysmorphology. 25(4):135-145, October 2016. Abstract Abstract Favorite PDF Permissions Buy
Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3-related hypotrichosis with juvenile macular dystrophy Leal-Rodríguez, Ricardo; Barragán-Arévalo, Tania; Pérez-Torres, Armando; More Leal-Rodríguez, Ricardo; Barragán-Arévalo, Tania; Pérez-Torres, Armando; Giraldo-Gómez, David M.; Zenteno, Juan Carlos Less Clinical Dysmorphology. 32(2):62-64, April 2023. Favorite PDF Permissions Buy SDC
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 Favorite PDF 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 Favorite PDF Permissions Buy
The dysmorphic phenotype in vascular Ehlers Danlos syndrome Lyness, James R.; Morrison, Patrick J. Lyness, James R.; Morrison, Patrick J. Less Clinical Dysmorphology. 32(1):1-6, January 2023. Abstract Abstract Favorite PDF 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 Favorite PDF Permissions Buy
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9 Cinleti, Tayfun; Gülen, Ali; Sönmez, Beria; More Cinleti, Tayfun; Gülen, Ali; Sönmez, Beria; Gürsoy, Semra; Boyacioğlu, Özge Kangalli; Asilsoy, Suna; Ulgenalp, Ayfer; Bozkaya, Özlem Giray; Çağlayan, Ahmet Okay Less Clinical Dysmorphology. : May 01, 2023 Favorite PDF Permissions Buy PAP
Bloom syndrome in children: unusual case of early onset lung damage Ajmi, Houda; Trabelsi, Ines; Rjiba, Khouloud; More Ajmi, Houda; Trabelsi, Ines; Rjiba, Khouloud; Mabrouk, Sameh; Zouari, Noura; Mougou-Zerelli, Soumaya; Verloes, Alain; Abroug, Saoussan Less Clinical Dysmorphology. 32(2):95-96, April 2023. Favorite PDF Permissions Buy
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. Favorite PDF Permissions Free
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. Favorite PDF 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 Favorite PDF Permissions Go to Full Text of this Article Open SDC
DEGS1-related leukodystrophy: a clinical report and review of literature Wong, Melissa Song Ting; Thomas, Terrence; Lim, Jiin Ying; More Wong, Melissa Song Ting; Thomas, Terrence; Lim, Jiin Ying; Kam, Sylvia; Teo, Jing Xian; Ching, Jianhong; Goh, Chew Yin Jasmine; Jamuar, Saumya Shekhar; Lim, Weng Khong; Koh, Ai Ling Less Clinical Dysmorphology. : May 01, 2023 Abstract Abstract Favorite PDF Permissions Buy PAP
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review Galarreta, Carolina I.; Wigby, Kristen M.; Jones, Marilyn C. Galarreta, Carolina I.; Wigby, Kristen M.; Jones, Marilyn C. Less Clinical Dysmorphology. 28(4):175-183, October 2019. Abstract Abstract Favorite PDF Permissions Buy
A boy with supernumerary mosaic trisomy 19q, involving 19q13.11–19q13.2, with macrocephaly, obesity and mild facial dysmorphism Hall, Catriona E.J.; Cunningham, Joan J.P.; Hislop, Robert G.; More Hall, Catriona E.J.; Cunningham, Joan J.P.; Hislop, Robert G.; Berg, Jonathan N. Less Clinical Dysmorphology. 19(4):218-221, October 2010. Favorite PDF 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 Favorite PDF Permissions Buy SDC
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia Rivera-Vargas, Jehú; Superti-Furga, Andrea; Bonafé, Luisa; More Rivera-Vargas, Jehú; Superti-Furga, Andrea; Bonafé, Luisa; Peña-Padilla, Christian; Cortés-Pastrana, Rocío Carolina; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Corona-Rivera, Jorge Román Less Clinical Dysmorphology. 32(1):14-17, January 2023. Favorite PDF Permissions Buy
Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus Majethia, Purvi; Harish, Rhea; Narayanan, Dhanya Lakshmi; More Majethia, Purvi; Harish, Rhea; Narayanan, Dhanya Lakshmi; B L, Yatheesha; Sharma, Suvasini; Shukla, Anju Less Clinical Dysmorphology. : May 08, 2023 Abstract Abstract Favorite PDF Permissions Buy SDC PAP
Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations Zhou, Xing; Chen, Feng-Ying; Ye, Xing-Guang; More Zhou, Xing; Chen, Feng-Ying; Ye, Xing-Guang; Liu, Zhi-Gang Less Clinical Dysmorphology. 31(4):181-184, October 2022. Favorite PDF Permissions Open
An unexpected clinical presentation in periodontal Ehler-Danlos syndrome: preterm birth, profound intellectual disability and self-injurious behavior Baykal, Saliha; Yildiz, Tuğçe; Gürbüz, Gürkan; More Baykal, Saliha; Yildiz, Tuğçe; Gürbüz, Gürkan; Tozkir, Hilmi Less Clinical Dysmorphology. 32(2):65-69, April 2023. Favorite PDF Permissions Buy
A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1 Holmquist, Peter Holmquist, Peter Less Clinical Dysmorphology. 24(2):75-78, April 2015. Favorite PDF 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. Favorite PDF Permissions Buy
Inherited duplication of the short arm of chromosome 18p11.32–p11.31 associated with developmental delay/intellectual disability Balasubramanian, Meena; Sithambaram, Sivagamy; Smith, Kath Balasubramanian, Meena; Sithambaram, Sivagamy; Smith, Kath Less Clinical Dysmorphology. 25(1):19-22, January 2016. Abstract Abstract Favorite PDF Permissions Buy
16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay Maldžiene, Živile; Bulanovaite, Elena; Aleksiuniene, Beata; More Maldžiene, Živile; Bulanovaite, Elena; Aleksiuniene, Beata; Utkus, Algirdas; Preiksaitiene, Egle Less Clinical Dysmorphology. 28(4):195-197, October 2019. Favorite PDF Permissions Buy
Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay Singh, Parshw; Agrawal, Neha; Maurya, Rajesh Kumar; More Singh, Parshw; Agrawal, Neha; Maurya, Rajesh Kumar; Moirangthem, Amita Less Clinical Dysmorphology. 31(4):206-210, October 2022. Favorite PDF Permissions Buy
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly Tkemaladze, Tinatin; Bratland, Eirik; Bregvadze, Kakha; More Tkemaladze, Tinatin; Bratland, Eirik; Bregvadze, Kakha; Shatirishvili, Teona; Tatishvili, Nino; Abzianidze, Elene; Houge, Gunnar; Douzgou, Sofia Less Clinical Dysmorphology. : May 08, 2023 Abstract Abstract Favorite PDF Permissions Buy PAP
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature Lim, Jiin Ying; Bhatia, Neha Singh; Vasanwala, Rashida Farhad; More Lim, Jiin Ying; Bhatia, Neha Singh; Vasanwala, Rashida Farhad; Chay, Pui Ling; Lim, Kevin Boon Leong; Khoo, Poh Choo; Schwarze, Ulrike; Jamuar, Saumya Shekhar Less Clinical Dysmorphology. 28(3):118-123, July 2019. Abstract Abstract Favorite PDF Permissions Buy
Distal trisomy 10q syndrome: phenotypic features in a child with inverted duplicated 10q25.1–q26.3 Carter, Melissa T.; Dyack, Sarah; Richer, Julie Carter, Melissa T.; Dyack, Sarah; Richer, Julie Less Clinical Dysmorphology. 19(3):140-145, July 2010. Favorite PDF Permissions Buy
Cantu syndrome and lymphoedema García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I.; More García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I.; Vargas, Ana L.; Castañeda-Cisneros, Gema; Davalos-Rodriguez, Nory; Patiño-Garcia, Brenda; Garcia-Cruz, Maria O.; Castañeda, Victor; Cardona, Ernesto G.; Marin-Solis, Bertha; Cantu, Jose M.; Nuñez-Reveles, Nelly; Moran-Moguel, Cristina; Thavanati, Pavarthi K.R.; Ramirez-Garcia, Sergio; Sanchez-Corona, Jose Less Clinical Dysmorphology. 20(1):32-37, January 2011. Abstract Abstract Favorite PDF Permissions Buy
Temtamy-like syndrome associated with translocation of 2p24 and 9q32 Talisetti, Anita; Forrester, Shawnia R.; Gregory, David; More Talisetti, Anita; Forrester, Shawnia R.; Gregory, David; Johnson, Lisa; Schneider, Michael C.; Kimonis, Virginia E. Less Clinical Dysmorphology. 12(3):175-177, July 2003. Abstract Abstract Favorite PDF Permissions Buy
Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region AlFardan, Jaffar; Brown, Kathleen; Gessner, Janine; More AlFardan, Jaffar; Brown, Kathleen; Gessner, Janine; Lunt, Brenda; Scharer, Gunter Less Clinical Dysmorphology. 20(4):217-221, October 2011. Favorite PDF Permissions Buy
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome Goldenstein, Hagit; Shrem, Sara Beni; Weiss, Omri; More Goldenstein, Hagit; Shrem, Sara Beni; Weiss, Omri; Zeligson, Sharon; Segel, Reeval; Mory, Adi; Weiss, Karin Less Clinical Dysmorphology. 30(4):181-185, October 2021. Favorite PDF Permissions Buy
A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics Nyboe, Daniel; Kreiborg, Sven; Darvann, Tron; More Nyboe, Daniel; Kreiborg, Sven; Darvann, Tron; Dunø, Morten; Nissen, Kamilla R.; Hove, Hanne B. Less Clinical Dysmorphology. 27(3):71-77, July 2018. Abstract Abstract Favorite PDF Permissions Buy
A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature Pelle, Alessandra; Pezzoli, Laura; Apuril, Erika; More Pelle, Alessandra; Pezzoli, Laura; Apuril, Erika; Iascone, Maria; Selicorni, Angelo Less Clinical Dysmorphology. 30(1):39-43, January 2021. Abstract Abstract Favorite PDF Permissions Buy
Nicolaides–Baraitser syndrome: two new cases with autism spectrum disorder Gana, Simone; Panizzon, Michela; Fongaro, Daniela; More Gana, Simone; Panizzon, Michela; Fongaro, Daniela; Selicorni, Angelo; Memo, Luigi; Scandurra, Valeria; Vannucci, Chiara; Bigozzi, Marta; Scordo, Maria Rosaria Less Clinical Dysmorphology. 20(1):38-41, January 2011. Abstract Abstract Favorite PDF Permissions Buy
Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene Gowda, Mamatha; Mohan, Shruthi; Ramesh, Devika; More Gowda, Mamatha; Mohan, Shruthi; Ramesh, Devika; Chinta, Navya Less Clinical Dysmorphology. 30(2):100-103, April 2021. Abstract Abstract Favorite PDF Permissions Buy
Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report. Martínez, Rafael; Peña, Camilo; Quiroga-Carrillo, Manuela; More Martínez, Rafael; Peña, Camilo; Quiroga-Carrillo, Manuela; Ordóñez-Reyes, Camila; Rincón, Julián; Suárez-Obando, Fernando; Nossa, Sergio; García, María Fernanda Less Clinical Dysmorphology. 31(3):162-166, July 2022. Favorite PDF 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 Favorite PDF 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. Favorite PDF Permissions Buy SDC
A rare mutation in the EPG5 gene causes Vici syndrome Demiral, Emine; Sen, Askin; Esener, Zeynep; More Demiral, Emine; Sen, Askin; Esener, Zeynep; Ceylaner, Serdar; Tekedereli, Ibrahim Less Clinical Dysmorphology. 27(4):145-147, October 2018. Favorite PDF Permissions Buy
De novo Xq21.31–q21.32 duplication in intellectual disability: a new report Cianci, Paola; Agosti, Massimo; Modena, Piergiorgio; More Cianci, Paola; Agosti, Massimo; Modena, Piergiorgio; Selicorni, Angelo Less Clinical Dysmorphology. 28(2):98-100, April 2019. Favorite PDF 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. Favorite PDF Permissions Buy
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome Geckinli, Bilge; Turkyilmaz, Ayberk; Alavanda, Ceren; More Geckinli, Bilge; Turkyilmaz, Ayberk; Alavanda, Ceren; Sager, Gunes; Arslan Ates, Esra; Soylemez, Mehmet Ali; Arman, Ahmet Less Clinical Dysmorphology. 32(2):55-61, April 2023. Abstract Abstract Favorite PDF Permissions Buy
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum Ashton, Chloe Jade; Perveen, Rahat; Beaman, Glenda; More Ashton, Chloe Jade; Perveen, Rahat; Beaman, Glenda; Crisponi, Giangiorgio; González-Del Angel, Ariadna; Garza-Mayén, Gilda; Alcántara-Ortigoza, Miguel Angel; O’Sullivan, James; Clayton-Smith, Jill Less Clinical Dysmorphology. 32(1):7-13, January 2023. Abstract Abstract Favorite PDF 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. Favorite PDF 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 Favorite PDF 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. 31(4):196-200, October 2022. Favorite PDF Permissions Buy SDC
Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet–Biedl syndrome Guran, Tulay; Ekinci, Gazanfer; Atay, Zeynep; More Guran, Tulay; Ekinci, Gazanfer; Atay, Zeynep; Turan, Serap; Akcay, Teoman; Bereket, Abdullah Less Clinical Dysmorphology. 20(1):26-31, January 2011. Abstract Abstract Favorite PDF 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 Favorite PDF Permissions Buy
Ophthalmic manifestations associated with RARB mutations Wangtiraumnuay, Nutsuchar; Kopinsky, Sarina; Iyer, Prashanth; More Wangtiraumnuay, Nutsuchar; Kopinsky, Sarina; Iyer, Prashanth; Capasso, Jenina; Whitehead, Rick; Schneider, Adele; Levin, Alex V. Less Clinical Dysmorphology. 28(1):46-49, January 2019. Favorite PDF Permissions Buy
Mosaic monosomy 14: clinical features and recognizable facies McConnell, V.; Derham, R.; McManus, D.; More McConnell, V.; Derham, R.; McManus, D.; Morrison, P.J. Less Clinical Dysmorphology. 13(3):155-160, July 2004. Abstract Abstract Favorite PDF Permissions Buy
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer Prasad, Charushree; Napier, Melanie P.; Rupar, Charles A.; More Prasad, Charushree; Napier, Melanie P.; Rupar, Charles A.; Prasad, Chitra Less Clinical Dysmorphology. 26(2):117-120, April 2017. Favorite PDF 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. Favorite PDF Permissions Buy
Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome Alomari, Ahmad I. Alomari, Ahmad I. Less Clinical Dysmorphology. 18(1):1-7, January 2009. Abstract Abstract Favorite PDF Permissions Buy
Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo–auriculo–vertebral spectrum and Treacher–Collins syndrome Su, Pen-Hua; Yu, Ju-Shan; Chen, Jia-Yuh; More Su, Pen-Hua; Yu, Ju-Shan; Chen, Jia-Yuh; Chen, Suh-Jen; Li, Shuan-Yow; Chen, Hsiao-Neng Less Clinical Dysmorphology. 16(4):261-267, October 2007. Abstract Abstract Favorite PDF 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. Favorite PDF Permissions Buy
Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype Jezela-Stanek, Aleksandra; Murcia, Pienkowski Victor; Jurkiewicz, Dorota; More Jezela-Stanek, Aleksandra; Murcia, Pienkowski Victor; Jurkiewicz, Dorota; Iwanicka-Pronicka, Katarzyna; Jedrzejowska, Maria; Krajewska-Walasek, Malgorzata; Ploski, Rafal Less Clinical Dysmorphology. 28(3):124-128, July 2019. Abstract Abstract Favorite PDF Permissions Buy
Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge Janssen, Etienne J.M.; Stegmann, Alexander P.A.; Stumpel, Constance T.R.M. Janssen, Etienne J.M.; Stegmann, Alexander P.A.; Stumpel, Constance T.R.M. Less Clinical Dysmorphology. 30(1):58-61, January 2021. Favorite PDF Permissions Buy
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation Linden, Helen C.; Price, Susan M. Linden, Helen C.; Price, Susan M. Less Clinical Dysmorphology. 20(2):86-88, April 2011. Favorite PDF Permissions Buy
First case of Myhre syndrome with schizophrenia Inoue, Keisuke; Eiro, Tsuyoshi; Semoto, Misato; More Inoue, Keisuke; Eiro, Tsuyoshi; Semoto, Misato; Roppongi, Tomohide; Nomoto, Munetaka; Takahashi, Yuichi; Hishimoto, Akitoyo Less Clinical Dysmorphology. 30(4):207-208, October 2021. Favorite PDF Permissions Buy
De Barsy syndrome: a review of the phenotype Kivuva, Emma C.; Parker, Michael J.; Cohen, Marta C.; More Kivuva, Emma C.; Parker, Michael J.; Cohen, Marta C.; Wagner, Bart E.; Sobey, Glenda Less Clinical Dysmorphology. 17(2):99-107, April 2008. Abstract Abstract Favorite PDF Permissions Buy
Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant Karaer, Kadri Karaer, Kadri Less Clinical Dysmorphology. 29(4):189-192, October 2020. Abstract Abstract Favorite PDF 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. Favorite PDF Permissions Buy
A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant Parmeggiani, Giulia; Gualandi, Francesca; Limarzi, Marco; More Parmeggiani, Giulia; Gualandi, Francesca; Limarzi, Marco; Ferlini, Alessandra; Brotto, Davide; Martini, Alessandro; Sensi, Alberto Less Clinical Dysmorphology. 31(4):185-190, October 2022. Favorite PDF Permissions Buy
Phenotypic features of diploid/triploid mosaicism in an adult Jewell, Rosalyn; Birch, Alison; Roberts, Paul; More Jewell, Rosalyn; Birch, Alison; Roberts, Paul; Blyth, Moira Less Clinical Dysmorphology. 23(2):56-59, April 2014. Favorite PDF Permissions Buy
Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients Ríos-González, Blanca E.; Rodríguez-Ortiz, Jessica F.; Castro-Martínez, Anna G.; More Ríos-González, Blanca E.; Rodríguez-Ortiz, Jessica F.; Castro-Martínez, Anna G.; Magaña-Torres, María T.; Barros-Núñez, Patricio Less Clinical Dysmorphology. 31(2):55-58, April 2022. Abstract Abstract Favorite PDF Permissions Buy
Mongolian spots in GM1 gangliosidosis: a pictorial report Mishra, Shivani; Pai, Pranita; Uttarilli, Anusha; More Mishra, Shivani; Pai, Pranita; Uttarilli, Anusha; Girisha, Katta Mohan Less Clinical Dysmorphology. 30(1):6-9, January 2021. Abstract Abstract Favorite PDF 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 Favorite PDF Permissions Buy
A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis Zhu, Haiyan; Chen, Yuanyuan; Niu, Yanyan; More Zhu, Haiyan; Chen, Yuanyuan; Niu, Yanyan; Zhang, Yunshan; Chen, Lei Less Clinical Dysmorphology. 31(2):71-73, April 2022. Favorite PDF Permissions Buy
A case of Beare–Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype McGaughran, Julie; Sinnott, Stephen; Susman, Rachel; More McGaughran, Julie; Sinnott, Stephen; Susman, Rachel; Buckley, Michael F.; Elakis, George; Cox, Timothy; Roscioli, Tony Less Clinical Dysmorphology. 15(2):89-93, April 2006. Abstract Abstract Favorite PDF 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. Favorite PDF 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 Favorite PDF 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. Favorite PDF Permissions Buy
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features Awwad, Johnny; Yammine, Tony; Hamdar, Layal; More Awwad, Johnny; Yammine, Tony; Hamdar, Layal; Souaid, Mirna; Farra, Chantal Less Clinical Dysmorphology. 32(2):80-83, April 2023. Favorite PDF Permissions Buy
A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Guion-Almeida, Maria Leine; Zechi-Ceide, Roseli Maria; Vendramini, Siulan; More Guion-Almeida, Maria Leine; Zechi-Ceide, Roseli Maria; Vendramini, Siulan; Ju´nior, Alfredo Tabith Less Clinical Dysmorphology. 15(3):171-174, July 2006. Abstract Abstract Favorite PDF Permissions Buy
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers Meszarosova, Anna Uhrova; Lastuvkova, Jana; Rennerova, Ladislava; More Meszarosova, Anna Uhrova; Lastuvkova, Jana; Rennerova, Ladislava; Hitka, Patrik; Cihlar, Filip; Seeman, Pavel; Safka Brozkova, Dana Less Clinical Dysmorphology. 29(4):197-201, October 2020. Abstract Abstract Favorite PDF Permissions Buy
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson Palka, Chiara; Antonucci, Ivana; Alfonsi, Melissa; More Palka, Chiara; Antonucci, Ivana; Alfonsi, Melissa; Bedeschi, Maria Francesca; Mohn, Angelika; Lalatta, Faustina; Chiarelli, Francesco; Palka, Giandomenico; Stuppia, Liborio Less Clinical Dysmorphology. 21(3):137-140, July 2012. Favorite PDF 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. 31(3):153-156, July 2022. Favorite PDF Permissions Buy
STAR syndrome: a further case and the first report of maternal mosaicism Lefroy, Henrietta; Hurst, Jane A.; Shears, Deborah J. Lefroy, Henrietta; Hurst, Jane A.; Shears, Deborah J. Less Clinical Dysmorphology. 26(3):157-160, July 2017. Favorite PDF Permissions Buy
An infant with trisomy 15 mosaicism Isikay, Sedat; Carman, Kursat B. Isikay, Sedat; Carman, Kursat B. Less Clinical Dysmorphology. 22(4):172-174, October 2013. Favorite PDF Permissions Buy
A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype Bownass, Lucy; Lunt, Peter; Williams, Cathy; More Bownass, Lucy; Lunt, Peter; Williams, Cathy; Woodbridge, Tamsin; Ellis, Matthew; Scurr, Ingrid Less Clinical Dysmorphology. 23(2):63-66, April 2014. Favorite PDF Permissions Buy
Genotype–phenotype study in type V osteogenesis imperfecta Balasubramanian, Meena; Parker, Michael J.; Dalton, Ann; More Balasubramanian, Meena; Parker, Michael J.; Dalton, Ann; Giunta, Cecilia; Lindert, Uschi; Peres, Luiz C.; Wagner, Bart E.; Arundel, Paul; Offiah, Amaka; Bishop, Nicholas J. Less Clinical Dysmorphology. 22(3):93-101, July 2013. Abstract Abstract Favorite PDF Permissions Buy
3p14p12 deletion syndrome: report of a new case providing further evidence of a clinically recognizable syndrome Johnson, Katie; Yates, Katherine; Martin, Katherine; More Johnson, Katie; Yates, Katherine; Martin, Katherine; Suri, Mohnish Less Clinical Dysmorphology. 25(4):163-166, October 2016. Favorite PDF Permissions Buy
A severe prenatal presentation of Cat Eye Syndrome Jedraszak, Guillaume; Receveur, Aline; Andrieux, Joris; More Jedraszak, Guillaume; Receveur, Aline; Andrieux, Joris; Naepels, Philippe; Mathieu-Dramard, Michèle; Bremond-Gignac, Dominique; Sevestre, Henri; Copin, Henri; Rochette, Jacques Less Clinical Dysmorphology. 22(4):175-177, October 2013. Favorite PDF 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. Favorite PDF Permissions Buy
Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation Bend, Eric G.; Louie, Raymond J.; Stevenson, Roger E. Bend, Eric G.; Louie, Raymond J.; Stevenson, Roger E. Less Clinical Dysmorphology. 28(2):71-73, April 2019. Favorite PDF Permissions Buy
PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature Apperley, Louise J.; Albaba, Shadi; Dharmaraj, Poonam; More Apperley, Louise J.; Albaba, Shadi; Dharmaraj, Poonam; Balasubramanian, Meena Less Clinical Dysmorphology. 32(1):43-47, January 2023. Favorite PDF Permissions Buy
A case of persistent pulmonary hypertension in a newborn with Costello syndrome O'Shea, Joyce; Lynch, Sally Ann; Macken, Sheila O'Shea, Joyce; Lynch, Sally Ann; Macken, Sheila Less Clinical Dysmorphology. 17(4):287-288, October 2008. Favorite PDF Permissions Buy
