Results 31 to 40 of about 1,690 (126)
F1000Research, 2015 Skeletal dysplasias are disorders associated with a generalized abnormality in the skeleton. The Gollop-Wolfgang complex (GWC) is a limb deficiency disorder and an unusual limb malformation with highly variable manifestations.
Ihtesham A. Qureshi +6 more
doaj +1 more source
Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics
JIMD Reports, Volume 67, Issue 3, May 2026.ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen +43 more
wiley +1 more source
Frontiers in Genetics, 2022 Ectrodactyly–ectodermal dysplasia–cleft (EEC) syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefting.
He Biwei +10 more
doaj +1 more source
Pathways to enhancing prenatal diagnosis of skeletal dysplasias
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang +4 more
wiley +1 more source
Familial Ectrodactyly Syndrome in a Nigerian Child: A Case Report
Oman Medical Journal, 2011 Ectrodactyly, also known as Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod. It has a prevalence of 1:10,000-1:90,000 worldwide.
Abdulrasheed Adegboye +7 more
doaj
Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant
Indian Journal of Dermatology, 2016 Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300FNx01 in exon 10 of PORCN gene with mosaicism, earlier ...
Swathi Sunil Rao +3 more
doaj +1 more source
Split Hand/Foot Malformation: Case Series A Case Report and Review of Literature [PDF]
Journal of Clinical and Diagnostic Research, 2019 Split Hand/Foot Malformation (SHFM) is a rare genetic disorder. It is also known as ectrodactyly. In this disorder, the central rays of the hand and feet are affected leading to various malformations of the hands and feet.
Divya Chauhan, Alpana Singh
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder characterized by abnormal development of ectodermal structures including hair, teeth, nails, and sweat glands. Dental manifestations such as anodontia or hypodontia can significantly impair mastication, speech development, facial esthetics, and psychosocial well‐being ...
Nazera Ahmadzai +5 more
wiley +1 more source
Anonychia associated with ectrodactyly syndrome: a case report
The Turkish Journal of Pediatrics, 1989 Anonychia with ectrodactyly is a rare inherited autosomal dominant syndrome. A case of a two-month-old female infant presenting with anonychia in association with ectrodactyly and microcephaly is presented.
T Patiroğlu, E Hasanoğlu
doaj
Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert +4 more
wiley +1 more source