Results 71 to 80 of about 11,053 (170)
Anesthetic Management of Patient for Case with Apert Syndrome
Haseki Tıp Bülteni, 2018 Apert syndrome is an autosomal dominant inherited mandibulofacial dysostosis characterized by craniosynostosis, syndactyly, high forehead, broad nose, maxillary hypoplasia, synostosis of cervical vertebrae, organ malformations, and mental retardation. It
Gamze Küçükosman +3 more
doaj +1 more source
Clinical Characterization of Skin Findings on the Hands in Proteus Syndrome
Pediatric Dermatology, EarlyView.ABSTRACT Background Proteus syndrome is a progressive asymmetric overgrowth disorder caused by mosaic activating variants in AKT1. It most frequently affects the skin, soft tissues, bones, and central nervous system and increases the risk for certain tumors and venous thromboembolism. A hallmark feature is the progressive plantar cerebriform connective
Samantha D. Verling +4 more
wiley +1 more source
The bovine aristaless-like homeobox 4 (ALX4) as a candidate gene for syndactyly [PDF]
, 2006 The ALX4 (aristaless-like homeobox 4) gene encodes a paired-type homeodomain transcriptional activator and plays a major role in anterior-posterior pattern formation during limb development.
Kuiper, H +3 more
core +1 more source
Inherited syndactyly in a Simmental suckler herd: a case report
, 2008 This article describes the investigation of 6 cases of syndactyly in Simmental calves on the same farm in the UK [date not given]. All affected calves were healthy for the first 10 weeks of life but subsequently deteriorated and were euthanized.
Simkins, K, Jeckel, S J, Nevel, M
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Surgical treatment of syndactilia and our results
Acta Orthopaedica et Traumatologica Turcica, 2021 Between the years 1992 - 1996, 16 patients with 33 syndactyly webs had undergone surgery at our institution. The digits seperated by multiple zig-zag incisions. For web reconstruction, Bauer s dorsal rectanguler flap is used. Mean follow-up period was 15,
Taskin Altay +4 more
doaj
Clinical manifestations of Apert syndrome
Clinical Case Reports, 2023 Apert syndrome presents similarly to the one we presented in this image, and a genetic study is used for confirmation. This image shows the typical findings of physical examination, so that if this appears in the outpatient department, the diagnosis of ...
Qaisar Ali Khan +3 more
doaj +1 more source
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
A new form of long QT syndrome associated with syndactyly
, 1995 Objectives. The purpose of this study was to characterize a possible association between long QT syndrome and syndactyly.Background. Long QT syndrome causes syncope and sudden death from ventricular arrhythmias.
Marks, Melinda L +7 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.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 +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1719-1724, July 2026.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 +11 more
wiley +1 more source