title: Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism.
abstract: The Pallister-Hall syndrome is characterised by a spectrum of anomalies including congenital hypothalamic "hamartoblastoma" hypopituitarism, imperforate anus, polydactyly and various visceral anomalies. Rare familial cases with an autosomal dominant inheritance pattern with variable expressivity have been reported. Cases of more mildly affected individuals with Pallister-Hall syndrome have been described, including cases of asymptomatic individuals. We report a case of Pallister-Hall syndrome with microphallus and without growth hormone deficiency that has been followed successfully for two years. The patient presented postaxial polydactyly of hands, dysplasic nails, imperforate anus, small penis, scrotum bifidum with very thin urethra, bifid epiglottis and a bilateral simian crease. There was vesico-ureteral-reflux, insertional hexadactyly of the left hand and two Y shaped metacarpal with six fingers at the right hand. Brain MR imaging revealed a large sellar and suprasellar mass. A perineal anorectoplasty and a vesicostomy were performed. Laryngeal dyspnea appeared when he was 13 months old. Bronchoscopy revealed anterior synechia of vocal cords with cricoidian stenosis. A tracheostomy was performed. Mental development was normal. No mutation of the zinc finger transcription factor gene, GLI 3 was detected.
authors.affiliation: Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France. claude.stoll@chru-strasbourg.fr
authors.forename: C
authors.initials: C
authors.lastname: Stoll
authors.forename: A
authors.initials: A
authors.lastname: De Saint Martin
authors.forename: L
authors.initials: L
authors.lastname: Donato
authors.forename: K
authors.initials: K
authors.lastname: Alembik
authors.forename: P
authors.initials: P
authors.lastname: Sauvage
authors.forename: J
authors.initials: J
authors.lastname: Messer
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics; D003251:Constriction, Pathologic / Q000235:genetics; D003413:Cricoid Cartilage / Q000002:abnormalities*; D006222:Hamartoma / Q000235:genetics; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics*; D007027:Hypothalamic Diseases / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D010413:Penis / Q000002:abnormalities*; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D013577:Syndrome