The First Documented Case of Pallister-Hall Syndrome in Iraq
Versandkostenfrei!
Versandfertig in 6-10 Tagen
29,99 €
inkl. MwSt.
PAYBACK Punkte
15 °P sammeln!
Pallister-Hall syndrome is a very rare autosomal dominant disorder with highly variable expression, and fewer than 120 cases reported in the literature. The hallmark features of the syndrome include mesoaxial polydactyly (central finger duplication or broadening), cutaneous syndactyly (webbing of skin between digits), and a benign hypothalamic hamartoma that can be asymptomatic or may lead to seizures or endocrine abnormalities. Additional features may include renal anomalies, imperforate anus, and vertebral dysplasia. We have previously reported an uncountable number of the first described di...
Pallister-Hall syndrome is a very rare autosomal dominant disorder with highly variable expression, and fewer than 120 cases reported in the literature. The hallmark features of the syndrome include mesoaxial polydactyly (central finger duplication or broadening), cutaneous syndactyly (webbing of skin between digits), and a benign hypothalamic hamartoma that can be asymptomatic or may lead to seizures or endocrine abnormalities. Additional features may include renal anomalies, imperforate anus, and vertebral dysplasia. We have previously reported an uncountable number of the first described disorders in Iraq. This book documents the first confirmed case of Pallister-Hall syndrome in Iraq, contributing to the global documentation of this ultra-rare condition.This case highlights classic features of Pallister-Hall syndrome, particularly the distinctive mesoaxial polydactyly and vertebral dysplasia. The presence of right-sided Grade II vesico-ureteral reflux further aligns with previous reports that suggest genitourinary anomalies may be part of the broader phenotypic spectrum of the syndrome.
Andere Kunden interessierten sich für
