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Clinical Dysmorphology

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Papers18
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Journal Papers 18
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Management of a four-generation family affected by GDF6 multiple synostoses syndrome type 4
deleteClinical Dysmorphology
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delete2026-04-01
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deleteSteel, Edward; Wright, Jonathan; Coles, Rachel
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A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype
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delete2026-04-01
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deletePakhathirathien, Pattima; Vaseenon, Hathaipat; Thammachote, Weerin; Songpatanasilp, Chayanist; Sinpitak, Praweena; Tocharoentanaphol, Chintana; Jinawath, Natini; Wattanasirichaigoon, Duangrurdee
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Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family
deleteClinical Dysmorphology
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delete2026-04-01
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deleteAhmad, Shafeeq; Khan, Bushra; Shams, Hamza; Sao, Go Hun; Gul, Ambreen; Khang, Rin; Khan, Saadullah; Kalsoom, Umm-e
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Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview
deleteClinical Dysmorphology
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delete2026-04-01
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deleteGladkauskas, Titas; Cristea, Ileana; Mehrasa, Roya; Bruland, Ove; Rustad, Cecilie F.; Faivre, Laurence; Rodahl, Eyvind; Bredrup, Cecilie
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Fontaine progeroid syndrome into early adolescence: a case report
deleteClinical Dysmorphology
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delete2026-04-01
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deleteManisha, Rani; Nilay, Mayank; Srinivasan, Varunvenkat M.; Rikhari, Pradeep
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Exploring ATP6V1B2-related disorders: a case report-based literature review
deleteClinical Dysmorphology
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delete2026-04-01
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deleteMa, Tsz Ching Nadine; Shih, Fong Ying Connie; Ou, Min; Wu, Kwan Wai Phoebe; Yiu, Wing Chung; Ho, Stephanie Ka Lun; Cheng, Sze Wing Shirley; Luk, Ho Ming
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STAG1 developmental disorder associated with acute lymphoblastic leukaemia: a case report
deleteClinical Dysmorphology
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delete2026-04-01
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deleteHussain, Naveed; Sherlaw-Sturrock, Charlotte A.; Hartles-Spencer, Lorraine; Antoniadi, Thalia; Lam, Zena; Cooper, Nicola S.
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Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum
deleteClinical Dysmorphology
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delete2026-04-01
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deleteRahbeeni, Zuhair; Alsalman, Munirah; Alhamoudi, Saad
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Additional case report supports loss-of-function CCNK variants being causative for a recognizable syndromic neurodevelopmental disorder
deleteClinical Dysmorphology
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delete2026-04-01
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deleteChan, Joshua C. K.; Ho, Stephanie K. L.; Cheng, Shirley S. W.; Luk, Ho-Ming
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A de-novo frameshift variant in ZFHX4 associated with a recognisable neurodevelopmental disorder: a case report
deleteCLINICAL DYSMORPHOLOGY
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delete2025-10-01
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deleteGoel, Himanshu; O'Donnell, Sheridan
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A novel case of Al Kaissi syndrome in a 4-year-old boy: increasing significance of hydrocephalus and extending the phenotype
deleteClinical Dysmorphology
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delete2025-10-01
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deleteSheikh, Haaziq; Hussain, Naveed; Sabir, Ataf H.
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A new case of rhabdomyosarcoma in a patient with Mowat-Wilson syndrome
deleteCLINICAL DYSMORPHOLOGY
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delete2025-10-01
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deleteJacob, Jeeva; Quezada, Gerardo; Hildebrandt, Clara
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EBF3-related neurodevelopment disorder affecting an individual of Singaporean Arab and Malay origin: case report and review of the literature
deleteClinical Dysmorphology
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delete2025-10-01
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deleteRamalingam, Chitra Gangadaran; Lim, Jiin Ying; Goh, Jeannette; Kam, Sylvia; Law, Hai Yang; Mislan, Nur Afiqah Binte Mohd; Ng, Ivy; Thomas, Terrence Gerard Sundram; Lim, Weng Khong; Mascarenhas, Sandra Sylvia; Jamuar, Saumya Shekhar
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First case report of STAG2-associated syndromic disorder resulting from partial exon deletion inherited from asymptomatic mosaic carrier mother
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delete2025-10-01
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deleteChan, Joshua C. K.; Wong, Tracy C. H.; Mo, Chung-Yin; Fung, Sharon T. H.; Cheng, Timothy H. T.; Cheng, Shirley S. W.; Luk, Ho-Ming
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Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder
deleteClinical Dysmorphology
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delete2025-10-01
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deleteNerakh, Gayatri; Rachana, R. D.; Gurram, Sahitya
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Familial SIN3A-associated Witteveen-Kolk syndrome in a Chinese family with prominent ectodermal dysplasia, progeroid appearance, and early onset diabetes mellitus
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deleteChan, Joshua C. K.; Siu, Lisa L. P.; Ho, Stephanie K. L.; Cheng, Shirley S. W.; Luk, Ho-Ming
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Amnioreduction as a therapeutic strategy for MAGED2-related Bartter syndrome: prolonging gestation and improving outcomes through genetic-guided prenatal management
deleteClinical Dysmorphology
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delete2025-10-01
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deleteWu, Xiaoxia; Liu, Yang; Luo, Caiqun; Chen, Liyuan; Cao, Xiushu; Wang, Hui
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Traboulsi syndrome involving aortopathy: further evidence of the phenotypic overlap with Marfan syndrome
deleteCLINICAL DYSMORPHOLOGY
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delete2025-10-01
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deleteMcClatchey, Martin A.; Gardner, Jennifer F.
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