Results 21 to 30 of about 1,690 (126)
Autosomal recessive split-hand/split-foot malformation
Journal of Mahatma Gandhi Institute of Medical Sciences, 2016 Split-hand/split-foot malformation (SHFM), a congenital limb malformation, occurs due to the absence of the central rays of autopod that results in a deep median cleft of the hand and/or foot.
Monojit Mondal +3 more
doaj +1 more source
Gollop-Wolfgang Complex in a New Born with Morton's Toe and Congenital Heart Disease [PDF]
Journal of Krishna Institute of Medical Sciences University, 2021 Gollop-Wolfgang complex is a rare anomaly comprising of bifid femur, tibial aplasia or hypoplasia and cleft of hands with variations and other systems involvement.
Gurudutt Joshi
doaj
Split-hand/split-foot malformation (SHFM)
Asian Journal of Medical Sciences, 2014 Split-hand/split-foot malformation (SHFM), also known as ectrodactyly or lobster claw hand is a congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of the central rays of the autopod. It may occur
Monojit Mondal
doaj +1 more source
Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome
Plastic and Reconstructive Surgery, Global Open, 2018 Background:. Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia.
Adi Rachmiel, DMD, PhD +4 more
doaj +1 more source
Case Reports in Genetics, 2013 Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges.
Jonathan Lévy +5 more
doaj +1 more source
Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature
Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi +13 more
wiley +1 more source
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome)
Contemporary Clinical Dentistry, 2012 The ectodermal dysplasias (EDs) are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias.
Mohita Marwaha, Kanwar Deep Singh Nanda
doaj +1 more source
Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum
Clinical Genetics, EarlyView.Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz +23 more
wiley +1 more source
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 +4 more
doaj +1 more source
Experimental Dermatology, Volume 35, Issue 7, July 2026.ABSTRACT The diagnosis of an ectodermal dysplasia (ED) is often made by dermatologists. Some of the more than 50 distinct ectodermal dysplasias, however, are still largely unknown and their pathogenesis is poorly understood. Since we recently discovered that variants of the Interferon Regulatory Factor 6 (IRF6) gene IRF6 may cause ED, we have further ...
Holm Schneider +7 more
wiley +1 more source