title: Johanson-Blizzard syndrome. a new case with autopsy findings.
abstract: Here we present a new case of Johanson-Blizzard Syndrome. Clinical features consistent with the diagnosis of Johanson-Blizzard Syndrome in a term neonate are described: intra-uterine growth retardation, aplasia of the nasal alae, midline scalp defect, total situs inversus, imperforate anus, malrotation of the small intestine, pancreatic insufficiency, deafness, and lethal congenital heart defects with dextrocardia. These features were confirmed by findings at autopsy. Parents were consanguineous. We compare these clinical features and findings at autopsy with previous cases reported in the literature.
authors.affiliation: Department of paediatrics and medical genetics, CHU, Hôtel Dieu, Clermont-Ferrand, France. pvanlieferinghen@chu-clermontferrand.fr
authors.forename: P H
authors.initials: PH
authors.lastname: Vanlieferinghen
authors.forename: C
authors.initials: C
authors.lastname: Borderon
authors.forename: C H
authors.initials: CH
authors.lastname: Francannet
authors.forename: P
authors.initials: P
authors.lastname: Gembara
authors.forename: P
authors.initials: P
authors.lastname: Dechelotte
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D001006:Anus, Imperforate / Q000473:pathology; D001344:Autopsy; D003241:Consanguinity; D019066:Facies; D005260:Female; D005317:Fetal Growth Retardation / Q000473:pathology; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010413:Penis / Q000002:abnormalities; D011247:Pregnancy; D012857:Situs Inversus / Q000473:pathology; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D016216:Ultrasonography, Prenatal