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 Buy
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
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
Mutation of PACS1: the milder end of the spectrum Martinez-Monseny, Antonio; Bolasell, Mercè; Arjona, Cesar; More Martinez-Monseny, Antonio; Bolasell, Mercè; Arjona, Cesar; Martorell, Loreto; Yubero, Delia; Arsmtrong, Judith; Maynou, Joan; Fernandez, Guerau; del Carmen Salgado, Maria; Palau, Francesc; Serrano, Mercedes Less Clinical Dysmorphology. 27(4):148-150, October 2018. Favorites PDF Get Content & Permissions Buy
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
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
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 Erratum
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 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
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
Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features Traub, Eric S.; Sheppard, Sarah E.; Dori, Yoav; More Traub, Eric S.; Sheppard, Sarah E.; Dori, Yoav; Burns, Katelyn D.; Zackai, Elaine H.; Ware, Stephanie M.; Landis, Benjamin J.; Li, Dong; Weaver, David D. Less Clinical Dysmorphology. 30(2):89-92, April 2021. Favorites PDF Get Content & Permissions Buy
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report Hackett, Anna; Rowe, Lindsay Hackett, Anna; Rowe, Lindsay Less Clinical Dysmorphology. 15(4):207-210, October 2006. Abstract Abstract Favorites PDF Get Content & Permissions Buy
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 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 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
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
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. 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
A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome Oakley-Hannibal, Elizabeth; Ghali, Neeti; Pope, Francis Michael; More Oakley-Hannibal, Elizabeth; Ghali, Neeti; Pope, Francis Michael; De Franco, Elisa; Ellard, Sian; van Dijk, Fleur S.; Brady, Angela F. Less Clinical Dysmorphology. 29(1):69-72, January 2020. 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 Free
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. 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
Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant Aiyar, Lila; Stumbaugh, Tammy; Hirata, Greigh I.; More Aiyar, Lila; Stumbaugh, Tammy; Hirata, Greigh I.; Chen, Bruce; Lau, Helen L.; Wallerstein, Robert J. Less Clinical Dysmorphology. 28(3):162-164, July 2019. Favorites PDF Get Content & Permissions Buy
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome Yalcintepe, Sinem; Gurkan, Hakan Yalcintepe, Sinem; Gurkan, Hakan Less Clinical Dysmorphology. 30(1):36-38, January 2021. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Clinical report: inherited deletion of chromosome 12q21.31q21.32 associated with a distinct phenotype and intellectual disability Akilapa, Rhoda S.; Smith, Kath; Balasubramanian, Meena Akilapa, Rhoda S.; Smith, Kath; Balasubramanian, Meena Less Clinical Dysmorphology. 24(4):151-155, October 2015. 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
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
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
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. Favorites PDF Get Content & Permissions Buy
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing Cogulu, Ozgur; Mojarrab, Neda; Simsir, Ozguc S.; More Cogulu, Ozgur; Mojarrab, Neda; Simsir, Ozguc S.; Durmaz, Asude; Aykut, Ayca; Cogulu, Dilsah Less Clinical Dysmorphology. 30(2):93-99, April 2021. Abstract Abstract 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
Microdeletion of the entire IRF6 gene in a Subsaharian African’s family with Van der Woude syndrome Mbuyi-Musanzayi, Sébastien; Kasamba, Eric I.; Revencu, Nicole; More Mbuyi-Musanzayi, Sébastien; Kasamba, Eric I.; Revencu, Nicole; Lukusa, Prosper T.; Kalenga, Prosper M.; Tshilombo, François K.; Reychler, Hervé; Devriendt, Koenraad Less Clinical Dysmorphology. 29(1):24-27, January 2020. Abstract Abstract Favorites PDF Get Content & 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 Favorites PDF Get Content & Permissions Buy
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly Dawson, Angelika J.; Hovanes, Karine; Liu, Jing; More Dawson, Angelika J.; Hovanes, Karine; Liu, Jing; Marles, Sandra; Greenberg, Cheryl; Mhanni, Aziz; Chudley, Albert; Frosk, Patrick; Sahoo, Trilochan; Schanze, Denny; Zenker, Martin Less Clinical Dysmorphology. 30(2):83-88, April 2021. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients Roessler, Helen I.; Volker-Touw, Catharina M.L.; Terhal, Paulien A.; More Roessler, Helen I.; Volker-Touw, Catharina M.L.; Terhal, Paulien A.; van Haaften, Gijs; van Haelst, Mieke M. Less Clinical Dysmorphology. 27(3):78-83, July 2018. 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
Novel FGD1 mutation underlying Aarskog–Scott syndrome with myopathy and distal arthropathy Al-Semari, Abdulaziz; Wakil, Salma M.; Al-Muhaizea, Mohammad A.; More Al-Semari, Abdulaziz; Wakil, Salma M.; Al-Muhaizea, Mohammad A.; Dababo, Mohammed; Al-Amr, Rana; Alkuraya, Fowzan; Meyer, Brian F. Less Clinical Dysmorphology. 22(1):13-17, January 2013. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Free
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
Is coloboma a feature of fetal valproate syndrome? Shah, Krupa H.; Shailaja, Sarpangala; Girisha, Katta M. Shah, Krupa H.; Shailaja, Sarpangala; Girisha, Katta M. Less Clinical Dysmorphology. 23(1):24-25, January 2014. Favorites PDF Get Content & Permissions Buy
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion Schierz, Ingrid Anne Mandy; Serra, Gregorio; Antona, Vincenzo; More Schierz, Ingrid Anne Mandy; Serra, Gregorio; Antona, Vincenzo; Persico, Ivana; Corsello, Giovanni; Piro, Ettore Less Clinical Dysmorphology. 29(3):141-143, July 2020. Favorites PDF Get Content & Permissions Buy
Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability Kirat, Emre; Mutlu Albayrak, Hatice; Sahinoglu, Bahtiyar; More Kirat, Emre; Mutlu Albayrak, Hatice; Sahinoglu, Bahtiyar; Gurler, Abdullah Ihsan; Karaer, Kadri Less Clinical Dysmorphology. 29(3):137-140, July 2020. Favorites PDF Get Content & Permissions Buy
Familial Kagami–Ogata syndrome in Chinese Luk, Ho-Ming Luk, Ho-Ming Less Clinical Dysmorphology. 26(2):124-127, April 2017. Favorites PDF Get Content & Permissions Buy
The TWIST2 mutation causes Setleis syndrome: a rare clinical case report Ayaz, Akif; Yalcintepe, Sinem; Ozalp Yuregir, Ozge; More Ayaz, Akif; Yalcintepe, Sinem; Ozalp Yuregir, Ozge; Sahin, Yavuz; Ozer, Ahmet; Eser, Metin; Celik, Umit Less Clinical Dysmorphology. 26(2):128-131, April 2017. Favorites PDF Get Content & Permissions Buy
Pitt–Hopkins syndrome in two patients and further definition of the phenotype Peippo, Maarit M.; Simola, Kalle O.J.; Valanne, Leena K.; More Peippo, Maarit M.; Simola, Kalle O.J.; Valanne, Leena K.; Larsen, Andreo T.; Kähkönen, Marketta; Auranen, Mari P.; Ignatius, Jaakko Less Clinical Dysmorphology. 15(2):47-54, April 2006. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis Apperley, Louise J.; Richmond, Stacey; Ramakrishnan, Renuka; More Apperley, Louise J.; Richmond, Stacey; Ramakrishnan, Renuka; Balasubramanian, Meena Less Clinical Dysmorphology. 29(3):155-157, July 2020. Favorites PDF Get Content & Permissions Buy
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1 Krøigård, Anne B.; Jackson, Andrew P.; Bicknell, Louise S.; More Krøigård, Anne B.; Jackson, Andrew P.; Bicknell, Louise S.; Baple, Emma; Brusgaard, Klaus; Hansen, Lars K.; Ousager, Lilian B. Less Clinical Dysmorphology. 25(2):68-72, April 2016. Favorites PDF Get Content & Permissions Open
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
Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report Wang, Hui; Zhang, Xiaohua; Ding, Hongfang Wang, Hui; Zhang, Xiaohua; Ding, Hongfang Less Clinical Dysmorphology. 30(1):27-31, January 2021. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity? Nezarati, Marjan M.; Aftimos, Salim Nezarati, Marjan M.; Aftimos, Salim Less Clinical Dysmorphology. 16(1):9-13, January 2007. Abstract Abstract Favorites PDF Get Content & Permissions Buy
DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature Ting, Teck Wah; Brett, Maggie S.; Cham, Breana W.M.; More Ting, Teck Wah; Brett, Maggie S.; Cham, Breana W.M.; Lim, Jiin-Ying; Law, Hai Yang; Tan, Ene Choo; Lai, Angeline H.M.; Jamuar, Saumya S. Less Clinical Dysmorphology. 25(1):37-40, January 2016. Favorites PDF Get Content & 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. Favorites PDF Get Content & Permissions Buy
Growth retardation, developmental delay and dysmorphic features in a girl with a partial duplication of Xq Donnelly, Deirdre E.; Jones, June; McNerlan, Susan E.; More Donnelly, Deirdre E.; Jones, June; McNerlan, Susan E.; McGrattan, Peter; Humphreys, Mervyn; McKee, Shane Less Clinical Dysmorphology. 20(2):82-85, April 2011. 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
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
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype Wortmann, Saskia Brigitte; Morava, Eva Wortmann, Saskia Brigitte; Morava, Eva Less Clinical Dysmorphology. 20(3):168-169, July 2011. Favorites PDF Get Content & Permissions Buy
Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview Douzgou, Sofia; Mingarelli, Rita; Dallapiccola, Bruno Douzgou, Sofia; Mingarelli, Rita; Dallapiccola, Bruno Less Clinical Dysmorphology. 18(4):205-208, October 2009. Abstract Abstract Favorites PDF Get Content & Permissions Buy
The tale of a nail sign in chromosome 4q34 deletion syndrome Vogt, Julie; Ryan, Ethel; Tischkowitz, Marc D.; More Vogt, Julie; Ryan, Ethel; Tischkowitz, Marc D.; Reardon, William; Brueton, Louise A. Less Clinical Dysmorphology. 15(3):127-132, July 2006. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A family with hereditary congenital facial paresis and a brief review of the literature Alrashdi, Ismail S.; Rich, Philip; Patton, Michael A. Alrashdi, Ismail S.; Rich, Philip; Patton, Michael A. Less Clinical Dysmorphology. 19(4):198-201, October 2010. Abstract Abstract Favorites PDF Get Content & 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. Favorites PDF Get Content & Permissions Buy
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation Dursun, Ali; Yalnizoglu, Dilek; Gerdan, Omer F.; More Dursun, Ali; Yalnizoglu, Dilek; Gerdan, Omer F.; Yucel-Yilmaz, Didem; Sagiroglu, Mahmut S.; Yuksel, Bayram; Gucer, Safak; Sivri, Serap; Ozgul, Riza K. Less Clinical Dysmorphology. 26(1):1-12, January 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Two patients with 19p13.2 deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay, and epilepsy Kuroda, Yukiko; Mizuno, Yoko; Mimaki, Masakazu; More Kuroda, Yukiko; Mizuno, Yoko; Mimaki, Masakazu; Oka, Akira; Sato, Yusuke; Ogawa, Seishi; Kurosawa, Kenji Less Clinical Dysmorphology. 26(4):224-227, October 2017. Favorites PDF Get Content & Permissions Buy
Zimmermann–Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures Balasubramanian, Meena; Parker, Michael J. Balasubramanian, Meena; Parker, Michael J. Less Clinical Dysmorphology. 19(1):48-50, January 2010. Favorites PDF Get Content & Permissions Buy
Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5 Low, Karen J.; Buxton, Chris C.; Newbury-Ecob, Ruth A. Low, Karen J.; Buxton, Chris C.; Newbury-Ecob, Ruth A. Less Clinical Dysmorphology. 24(3):113-114, July 2015. Favorites PDF Get Content & Permissions Buy
Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings Tadros, Shereen; Scott, Richard H.; Calder, Alistair D.; More Tadros, Shereen; Scott, Richard H.; Calder, Alistair D.; Hurst, Jane A. Less Clinical Dysmorphology. 26(1):13-17, January 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Differences in the clinical spectrum of two adolescent male patients with Alström syndrome Kuburovic, Vladimir; Marshall, Jan D.; Collin, Gayle B.; More Kuburovic, Vladimir; Marshall, Jan D.; Collin, Gayle B.; Nykamp, Keith; Kuburovic, Nina; Milenkovic, Tatjana; Rakic, Sanja; Djuric, Milena; Jecmenica, Jovana; Milenkovic, Svetislav; Naggert, Jürgen K. Less Clinical Dysmorphology. 22(1):7-12, January 2013. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Free
A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder Cross, Laura A.; McWalter, Kirsty; Keller-Ramey, Jennifer; More Cross, Laura A.; McWalter, Kirsty; Keller-Ramey, Jennifer; Henderson, Lindsay B.; Amudhavalli, Shivarajan M. Less Clinical Dysmorphology. 29(3):161-164, July 2020. Favorites PDF Get Content & 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. Favorites PDF Get Content & Permissions Buy
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 Favorites PDF Get Content & Permissions Buy
Agenesis of the vocal cords in a female infant with Robin sequence Corona-Rivera, Jorge Román; Yanowsky-Reyes, Guillermo; Arnaud-López, Lisette; More Corona-Rivera, Jorge Román; Yanowsky-Reyes, Guillermo; Arnaud-López, Lisette; Bobadilla-Morales, Lucina; Aguirre-Guillén, Rafael Luis; Jasso-Bernal, Jesús Estiven; Corona-Rivera, Alfredo; Aguirre-Jáuregui, Oscar Less Clinical Dysmorphology. 20(4):232-233, October 2011. Favorites PDF Get Content & Permissions Buy
X-linked BCOR-related syndrome in two male siblings Archer, Nicole E.; Mercer, Leanne; Goobie, Sharan; More Archer, Nicole E.; Mercer, Leanne; Goobie, Sharan; Velsher, Lea; Colaiacovo, Samantha; Prasad, Chitra Less Clinical Dysmorphology. 30(2):104-109, April 2021. Favorites PDF Get Content & Permissions Buy
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review Zhang, Kaihui; Meng, Chen; Ma, Jing; More Zhang, Kaihui; Meng, Chen; Ma, Jing; Gao, Min; Lv, Yuqiang; Liu, Yi; Gai, Zhongtao Less Clinical Dysmorphology. 26(3):135-141, July 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
When Rothmund–Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia Tadros, Shereen; Forde, Karina; Syed, Samira; More Tadros, Shereen; Forde, Karina; Syed, Samira; Gholam, Karolina; Hurst, Jane Less Clinical Dysmorphology. 30(1):50-53, January 2021. Favorites PDF Get Content & 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 Favorites PDF Get Content & Permissions Buy
A novel TWIST1 gene mutation in a patient with Saethre–Chotzen syndrome Altiner, Sule; Karabulut, Halil G.; Yararbas, Kanay; More Altiner, Sule; Karabulut, Halil G.; Yararbas, Kanay; Tükün, Ajlan; Collet, Corinne; Kocaay, Pinar; Berberoglu, Merih; Ilgin Ruhi, Hatice Less Clinical Dysmorphology. 26(3):175-178, July 2017. Favorites PDF Get Content & Permissions Buy
An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation Bouman, Arjan; Weiss, Marjan; Jansen, Sandra; More Bouman, Arjan; Weiss, Marjan; Jansen, Sandra; Hankel, Margot; Nieuwint, Aggie; Adriaanse, Bauke; van de Kamp, Jiddeke; Tan-Sindhunata, Gita Less Clinical Dysmorphology. 24(2):68-74, April 2015. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein–Taybi syndrome Czeschik, Johanna Christina; Albrecht, Beate; Kayserili, Hülya; More Czeschik, Johanna Christina; Albrecht, Beate; Kayserili, Hülya; Kuechler, Alma; Wagner, Nicholas; Wieczorek, Dagmar; Lüdecke, Hermann-Josef Less Clinical Dysmorphology. 23(2):67-70, April 2014. Favorites PDF Get Content & Permissions Buy
Alagille syndrome with deletion 20p12.2–p12.3 and hypoplastic left heart Robert, Marie Leema P.; Lopez, Tony; Crolla, John; More Robert, Marie Leema P.; Lopez, Tony; Crolla, John; Huang, Shuwen; Owen, Carol; Burvill-Holmes, Lisa; Stumper, Oliver; Turnpenny, Peter D. Less Clinical Dysmorphology. 16(4):241-246, October 2007. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome Nobile, Stefano; Pisaneschi, Elisa; Novelli, Antonio; More Nobile, Stefano; Pisaneschi, Elisa; Novelli, Antonio; Carnielli, Virgilio P. Less Clinical Dysmorphology. 28(2):74-77, April 2019. Favorites PDF Get Content & Permissions Buy
Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12 Bosch, Daniëlle G.M.; Boonstra, Frouke N.; Pfundt, Rolph; More Bosch, Daniëlle G.M.; Boonstra, Frouke N.; Pfundt, Rolph; Cremers, Frans P.M.; de Vries, Bert B.A. Less Clinical Dysmorphology. 24(1):34-37, January 2015. Favorites PDF Get Content & Permissions Buy
Macrocephaly-capillary malformation: a report of four Chinese patients and literature review Luk, Ho Ming; Lo, Ivan F.M.; Lai, Carman W.S.; More Luk, Ho Ming; Lo, Ivan F.M.; Lai, Carman W.S.; Yeung, Wai Lan; Lam, Stephen T.S. Less Clinical Dysmorphology. 21(2):64-68, April 2012. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Oral–facial–digital syndrome type 1: unique radiological findings Khalifa, Ola; Rahbeeni, Zuhair; Alhashmi, Nadia; More Khalifa, Ola; Rahbeeni, Zuhair; Alhashmi, Nadia; Almane, Khalid Less Clinical Dysmorphology. 21(2):77-79, April 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
Interstitial deletion of the short arm of chromosome 2 in a mother and child, with facial dysmorphism and mild learning difficulties Armstrong, Ruth; Ellis, Ian; Kightley, Catherine; More Armstrong, Ruth; Ellis, Ian; Kightley, Catherine; Sethi, Vijay Dinanadh; McCarthy, Emma; Maye, Una; White, Gillian Less Clinical Dysmorphology. 15(4):221-223, October 2006. Abstract Abstract Favorites PDF Get Content & Permissions Buy
First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa Khazanchi, Rohan; Yetman, Anji T.; Sanmann, Jennifer N.; More Khazanchi, Rohan; Yetman, Anji T.; Sanmann, Jennifer N.; Starr, Lois J. Less Clinical Dysmorphology. 29(3):132-136, July 2020. Favorites PDF Get Content & Permissions Buy
Potocki–Lupski syndrome mimicking a connective tissue disorder Martin, Judy; Knight, Samantha J.L.; Sharp, Andrew J.; More Martin, Judy; Knight, Samantha J.L.; Sharp, Andrew J.; Eichler, Evan E.; Hurst, Jane; Kini, Usha Less Clinical Dysmorphology. 17(3):211-213, July 2008. Favorites PDF Get Content & Permissions Buy
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss Henn, Alina; Weng, Harald; Novak, Simon; More Henn, Alina; Weng, Harald; Novak, Simon; Rettenberger, Günther; Gerhardinger, Andreas; Rossier, Eva; Zirn, Birgit Less Clinical Dysmorphology. 27(2):27-30, April 2018. 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
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
8p23.2p22 deletion: a case report of a large deletion encompassing 8p23.1 with additional clinical features LaBranche, Jennifer T.N.; Argiropoulos, Bob; Thomas, Mary Ann LaBranche, Jennifer T.N.; Argiropoulos, Bob; Thomas, Mary Ann Less Clinical Dysmorphology. 29(4):207-209, October 2020. 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
Thoracic dimples and dysmorphic features associated with a partial duplication and triplication of chromosome 12q24 Somers, Ines V.B.; Wojciechowski, Marek; Beckers, Sigri; More Somers, Ines V.B.; Wojciechowski, Marek; Beckers, Sigri; Rooms, Liesbeth; Kooy, Frank; Meuwissen, Marije E.C. Less Clinical Dysmorphology. 25(4):167-173, October 2016. 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
Further characterization of acro-renal-uterine-mandibular syndrome: report of a case and review of earlier reports Girisha, Katta Mohan; Pratap, Deepika; Shah, Hitesh H. Girisha, Katta Mohan; Pratap, Deepika; Shah, Hitesh H. Less Clinical Dysmorphology. 21(2):83-86, April 2012. Favorites PDF Get Content & Permissions Buy
Dysmorphology of Barth syndrome Hastings, Rob; Steward, Colin; Tsai-Goodman, Beverly; More Hastings, Rob; Steward, Colin; Tsai-Goodman, Beverly; Newbury-Ecob, Ruth Less Clinical Dysmorphology. 18(4):185-187, October 2009. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene Kirola, Laxmi; Edgar-Zarate, Courtney L.; Rook, Brita; More Kirola, Laxmi; Edgar-Zarate, Courtney L.; Rook, Brita; Rowell, Amy C.; Wood, Tim; Uchimura, Kenji; Schwartz, Charles E.; Zarate, Yuri A. Less Clinical Dysmorphology. 29(3):144-147, July 2020. Favorites PDF Get Content & Permissions Buy
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome Tanteles, George A.; Nicolaou, Nayia; Syrimis, Andreas; More Tanteles, George A.; Nicolaou, Nayia; Syrimis, Andreas; Metaxa, Rafaella; Nicolaou, Michael; Christophidou-Anastasiadou, Violetta; Skordis, Nicos Less Clinical Dysmorphology. 26(2):61-65, April 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Well-defined clinical presentation of Ehlers–Danlos syndrome in patients with tenascin-X deficiency: a report of four cases Hendriks, Anke G.M.; Voermans, Nicol C.; Schalkwijk, Joost; More Hendriks, Anke G.M.; Voermans, Nicol C.; Schalkwijk, Joost; Hamel, Ben C.; van Rossum, Michelle M. Less Clinical Dysmorphology. 21(1):15-18, January 2012. Abstract Abstract Favorites PDF Get Content & Permissions Buy
De novoSETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia Rawlins, Lettie E.; Stals, Karen L.; Eason, Julian D.; More Rawlins, Lettie E.; Stals, Karen L.; Eason, Julian D.; Turnpenny, Peter D. Less Clinical Dysmorphology. 26(2):95-97, April 2017. Favorites PDF Get Content & Permissions Buy
