Results 41 to 50 of about 1,690 (126)
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
Indian Journal of Paediatric DermatologyEctrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands along with ectrodactyly and clefting of lip/palate.
Shivani Ranjan, Neha Akhoon
doaj +1 more source
Malformation in three anuran species from a preserved remnant of Atlantic Forest in southeastern Brazil [PDF]
Neotropical Biology and Conservation, 2019 Records of malformation in amphibians have significantly increased on a global scale. The main causes of malformations are linked to environmental contaminants, and records in preserved environments are uncommon. We reported malformations in three anuran
Alexander Tamanini Mônico +2 more
doaj +3 more sources
Ectrodactyly in german shepherd dogs
Ciencia Veterinaria, 2017 The authors report a case of ectrodactyly in a 5-month-old German Shepherd. It is a description of the pathology aspects and the radiological characteristics of it.
Santiago Andrés Audisio +4 more
doaj
Four Unusual Cases of Congenital Forelimb Malformations in Dogs
Animals, 2021 Four dogs were presented with thoracic limb deformity. After clinical and radiographic examinations, a diagnosis of congenital malformations was performed for each of them.
Simona Di Pietro +6 more
doaj +1 more source
Ocular Features in Ectrodactyly–ectodermal Dysplasia Sans–clefting Syndrome: A Rare Case Report
Delhi Journal of OphthalmologyEctrodactyly–ectodermal dysplasia–clefting syndrome is a rare autosomal dominant disorder with variable expression and penetrance and involves both ectodermal and mesodermal tissues.
Rekha R. Khandelwal +2 more
doaj +1 more source
Organ‐Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review
Congenital Anomalies, Volume 66, Issue 1, January/December 2026.ABSTRACT The role of alcohol‐induced epigenetic modifications that predispose the fetus to metabolic dysregulation, increased susceptibility to future substance use, and long‐term behavioral and cognitive impairments has received increasing attention.
Rana Nur Gursu +2 more
wiley +1 more source
Neurogastroenterology &Motility, Volume 37, Issue 12, December 2025.The long‐term anorectal outcomes of non‐surgically treated patients diagnosed with minor types of ARM seem optimal. Most of these patients experience no constipation or fecal incontinence; some experience constipation and relatively seldom fecal incontinence. Furthermore, most patients possess all the known fecal continence mechanisms.
Venla E. C. den Hollander +3 more
wiley +1 more source
Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene. [PDF]
PLoS ONE, 2012 EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) is an autosomal dominant developmental disorder resulting mainly from pathogenic mutations of the DNA-binding domain (DBD) of the TP63 gene.
Jianhua Wei +11 more
doaj +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