Results 41 to 50 of about 6,061 (174)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)

BMC Genetics, 2007
Background Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds.
Höltershinken Martin, Distl Ottmar, Tammen Imke, Harlizius Barbara, Leeb Tosso, Drögemüller Cord, Gentile Arcangelo, Duchesne Amandine, Eggen André   +8 more
doaj   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Evaluation of hexagonal flap for Syndactyly repair

Zanco Journal of Medical Sciences
Background and objective: Syndactyly is among the most commonly treated hand anomalies by plastic surgeons. Since the 1800s,over 46 corrective procedures have been described.
Lavin Jawher Putris, Jalal Hamasalih Fattah   +1 more
doaj   +1 more source

Clinical Features of Apert Syndrome in Infancy: A rare case in Indonesia

Scripta Score Scientific Medical Journal, 2021
Background: Apert syndrome is characterized by several malformations of cranial-facial and syndactyly. The incidence of Apert syndrome was reported at approximately 1 per 65,000 live births, globally.
Muhammad Pradhika Mapindra, Muhammad Pradhiki Mahindra   +1 more
doaj   +1 more source

Digit patterning during limb development as a result of the BMP-receptor interaction [PDF]

, 2012
Turing models have been proposed to explain the emergence of digits during limb development. However, so far the molecular components that would give rise to Turing patterns are elusive.
Badugu, Amarendra, Germann, Philipp, Iber, Dagmar, Kraemer, Conradin, Menshykau, Denis   +4 more
core   +2 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China

BMC Pregnancy and Childbirth
Objective To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016–2020. Methods Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016–2020.
Xu Zhou, Ting Li, Haiyan Kuang, Ying Zhou, Donghua Xie, Jian He, Juan Xiao, Chanchan Chen, Yurong Jiang, Junqun Fang, Hua Wang   +10 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Apert syndrome: a case report

National Journal of Clinical Anatomy, 2015
Apert syndrome was described as a triad of craniosynostosis, syndactyly and maxillary hypoplasia. The incidence of Apert syndrome is approximately one in 50,000 births.
A Barman, B C Dutta, J K Sarkar
doaj   +1 more source