title: A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa.
abstract: A girl with severe pre- and post-natal short stature, low-pitched voice, retinitis pigmentosa, photophobia, short neck, broad thorax, platyspondyly, rhizomelic shortening of the long bones, bilateral subluxation of the hips, advanced maturation of the epiphyses, and apparently normal intellectual development is described. The girl's parents are first cousins. Two subsequent pregnancies had ended in spontaneous abortion with polyhydramnios and severe growth retardation. To the best of our knowledge, this association had not been previously reported, and may be considered a newly recognized 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: Nancy
authors.initials: N
authors.lastname: Melick
authors.forename: Linda
authors.initials: L
authors.lastname: Daou
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D008297:Male; D009139:Musculoskeletal Abnormalities; D011859:Radiography; D012174:Retinitis Pigmentosa / Q000473:pathology*; D013577:Syndrome