Results 41 to 50 of about 2,276 (204)

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, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

Lobster claw deformity

Indian Journal of Dental Research, 2014
Endogenous erythroid colony (EEC) syndrome comprise of three cardinal features, i.e. ectrodactyly, ectodermal dysplasia and cleft lip. EEC itself has three different forms.
Ashish Agrawal, Rahul Agrawal, Rajat Singh, Romi Agrawal, Seema Agrawal   +4 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, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Case Report: Gollop-Wolfgang Complex in a 5 month old baby [v3; ref status: indexed, http://f1000r.es/53y]

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, Rohit Kumar Gudepu, Ravikanth Chava, Sravya Emmani, Syed Husain Asghar, Mohtashim A. Qureshi, Nimmathota Arlappa   +6 more
doaj   +1 more source

Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly

, 2020
Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ...
Aerden, Mio, Holvoet, Maureen, Plasschaert, Frank, Devriendt, Koenraad, Bauters, Marijke, Vermeesch, Joris R., Van Den Bogaert, Kris   +6 more
core   +1 more source

Early Oral Rehabilitation of a Pediatric Patient With Hypohidrotic Ectodermal Dysplasia: A Case Report from Afghanistan

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, Hedayatullah Ehsan, Fatima Sapai, Mohammad Bashir Nejabi, Ahmad Anas Khairzad, Nematullah Sharifi   +5 more
wiley   +1 more source

Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney

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, He Biwei, Su Min, Wang Yanlin, Zhao Xinrong, Gao Li, Hua Renyi, Sun Jinling, Wang Shan, Wu Yi, Cheng Weiwei   +10 more
doaj   +1 more source

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

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, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

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, Rathika D Shenoy, Smrithi Salian, Katta M Girisha   +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