title: Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: a new skeletal dysplasia.
abstract: A boy with a severe prenatal onset dysplasia, prominent occiput, hypertelorism, epicanthus inversus, low-set ears, flat nasal bridge, small nares, cleft palate, subglottic stenosis, narrow cervical canal, undermodeled bones, cortical thinning of the diaphyses, hip dislocation, severely delayed bone ossification, and apparently normal intellectual development is described. Osseous histopathological studies were unremarkable. The boy's parents are first cousins, suggesting recessive inheritance. To the best of our knowledge, this association has not been reported before, and may be considered a novel syndrome.
authors.affiliation: Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
authors.forename: Ismat
authors.initials: I
authors.lastname: Ghanem
authors.forename: Tony
authors.initials: T
authors.lastname: Rizk
authors.forename: Pascal
authors.initials: P
authors.lastname: Jabbour
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology; D002574:Cervical Vertebrae / Q000002:abnormalities*; D003251:Constriction, Pathologic / Q000473:pathology*; D005317:Fetal Growth Retardation; D005931:Glottis / Q000473:pathology*; D006617:Hip Dislocation / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009999:Ossification, Heterotopic / Q000473:pathology*; D011859:Radiography; D013131:Spine / Q000002:abnormalities*