Results 91 to 100 of about 12,560 (202)
Manitoba Oculotrichoanal Syndrome: First Case Report From India
Delhi Journal of Ophthalmology, 2016 Manitoba-oculo-tricho-anal (MOTA) syndrome is very rare syndrome characterized by aberrant hairline, eye anomalies (ocular hypertelorism, cryptophthalmos, and upper eyelid colobomas), bifid nose, omphalocele and anorectal anomalies.
Sai Rani Karanam +3 more
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 6, June 2026.ABSTRACT We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2).
Rayan Khalid, Imad Fadl‐Elmula
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.A novel de novo NSD2 variant (c.2137G>C, p.Gly713Arg) was identified in a Chinese patient presenting with a syndromic developmental disorder. RNA analysis from patient‐derived material revealed that this missense variant induces aberrant splicing of NSD2 transcripts, resulting in a frameshift and likely a loss‐of‐function protein product.
Shixuan Xu +7 more
wiley +1 more source
Cerebellar involvement in midline facial defects with ocular hypertelorism
, 2015 Objective: Twenty-four patients were evaluated to better characterize neurological and neuroradiological aspects of midline facial defects with ocular hypertelorism.
Goncalves, VMG +3 more
core
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011 Sotos syndrome is a well-defined childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal ...
A Juneja, A Sultan
doaj +1 more source
Clinical Genetics, Volume 109, Issue 6, Page 1038-1048, June 2026.PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen +5 more
wiley +1 more source
Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome
Clinical Case Reports, 2017 Key Clinical Message We report two Japanese patients with Schinzel–Giedion syndrome. When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance ...
Nozomi Hishimura +16 more
doaj +1 more source
Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region
The Turkish Journal of Pediatrics, 2018 We report on a case with developmental delay and dysmorphic craniofacial features, and a novel~15.2 Mb interstitial deletion within 9q21.11q21.32 confirmed with array comparative genomic hybridization (aCGH). A twenty-two month old boy with inability to
Esra Tuğ, M Ali Ergün, E Ferda Perçin
doaj +1 more source
Contemporary Clinical Dentistry, 2010 Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies.
Y Samatha +4 more
doaj +1 more source
Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome
Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.
Nicholas A. Borja +8 more
wiley +1 more source