Results 71 to 80 of about 1,915 (178)

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Phenotype‐to‐Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study

Prenatal Diagnosis, Volume 45, Issue 1, Page 3-14, January 2025.
ABSTRACT Objective To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies. Method Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit.
Arda Arduç, Sandra J. B. van Dijk, Feikje J. ten Cate, Margriet H. M. van Doesburg, Ingeborg H. Linskens, Elisabeth van Leeuwen, Merel C. van Maarle, Eva Pajkrt   +7 more
wiley   +1 more source

Cleft Hand and Foot Syndrome: A Report of Three Cases with Review of Literature

Journal of Orthopaedic Case Reports
Introduction: Cleft hands and feet constitute a rare, congenital abnormality of limb bud development, manifesting as a cosmetically and, occasionally, a functional debility of the hands or feet.
Rajiv Kaul, Neha Akhoon, Manish Prasad
doaj   +1 more source

Evaluation of arterial anatomy in congenital clubfoot with color doppler ultrasound [PDF]

, 2008
OBJECTIVE: This investigation intended to evaluate anterior and posterior tibial arteries at the ankle joint level in congenital clubfoot, by using color Doppler ultrasound (CDU).
Akira Ishida, Ben-Menachem Y, Dobbs MB, Edelson JG, Francesco Camara Blumetti, Greider MD, Henrique Sodré, Hootnick DR, Hootnick DR, Hootnick DR, Hootnick DR, José Antonio Pinto, Katz DA, Kawashima T, Kitziger K, Lehman WB, Luiz Alberto Nakao Iha, Marcos Kiyoshi Terasaka, Morrissy RT, Polo GV, Quillin SP, Sarrafian SK, Schwartz RA, Schwering L, Sodre H, Stanitski CL   +25 more
core   +3 more sources

Dental and Craniofacial Findings in Early Childhood in Oral–Facial–Digital Syndrome Type 1: A Case Report

Case Reports in Dentistry, Volume 2025, Issue 1, 2025.
Background Oral–Facial–Digital Syndrome Type 1 (OFD1) is a genetic disorder marked by diverse malformations of the oral cavity, face, and digits. Case This case report presents a female patient who was first referred to the Department of Pedodontics at Istanbul University at 18 months of age due to the absence of teeth in the upper molar region and who
Selin Saygili, Yelda Kasimoglu, Dr Gheena Sukumaran   +2 more
wiley   +1 more source

A rare case of trisomy 18 with split-hand/split-foot malformation (SHFM)

Journal of Biomedicine and Translational Research, 2018
Background: Trisomy 18 is one of the most prevalent chromosomal aberrations in newborns, with characteristic features of internal organs such as heart and kidney abnormalities, as well as craniofacial and musculoskeletal anomalies. We present a rare case
Nydia Rena Benita Sihombing, Asri Purwanti, Agustini Utari   +2 more
doaj   +1 more source

Ectrodactyly/split hand feet malformation

Indian Journal of Human Genetics, 2009
Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis,
Jindal, Geetanjali, Parmar, Veena R., Gupta, Vipul Kumar   +2 more
openaire   +3 more sources

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report

Pediatric Dermatology, Volume 41, Issue 6, Page 1106-1113, November/December 2024.
ABSTRACT Background Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare ectodermal dysplasia that primarily affects the skin, skeleton, and eyes. It is an X‐linked dominant disorder, predominantly seen in females, caused by pathogenic variants in PORCN. Methods We characterized a case series of four genetically confirmed FDH patients
Laura Krogh Herlin, Morten Krogh Herlin, Hanne Vinter, Jenny Blechingberg, Brian Nauheimer Andersen, Casper Kruse, Mette Sommerlund   +6 more
wiley   +1 more source

Split-hand/feet malformation: A rare syndrome

Journal of Family Medicine and Primary Care, 2016
Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod.
Bahubali D Gane, P Natarajan
doaj   +1 more source