Results 91 to 100 of about 16,006 (225)
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
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
Acro-cardio-facial syndrome [PDF]
, 2010 Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation.
Maria Digilio, Bruno Dallapiccola
core +1 more source
Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant
Prenatal Diagnosis, EarlyView.
Haley M. Crane +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 728-732, March 2026.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
Nasal fibrosis: long-term follow up of four cases of eosinophilic angiocentric fibrosis [PDF]
, 2005 Eosinophilic angiocentric fibrosis is a rare, benign cause of submucosal thickening and fibrosis within the upper respiratory tract. It predominantly affects the nose although cases have been reported in the subglottis.
Gallimore, A, Lund, VJ, Paun, S
core +1 more source
Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki +6 more
wiley +1 more source
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
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