Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: a new skeletal dysplasia.
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.
Mégarbané
André
A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
Ghanem
Ismat
I
Rizk
Tony
T
Jabbour
Pascal
P
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*