title: Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia.
abstract: The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this report we describe a girl with gastroschisis and pulmonary hypoplasia in addition to features of Moebius syndrome comprising hypoplasia of the tongue and mandible, brachydactyly of halluces, cranial nerve palsies with bilateral facial paralysis and an inability to execute horizontal eye movements. Karyotyping and array-based comparative genomic hybridization were normal. This observation confirms an overlap between Moebius syndrome and OLHS and widens the spectrum of associated malformations. Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition.
authors: Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Str. 40, 37075 Göttingen, Germany. kbrock@med.uni-goettingen.de
authors: Knut
authors: K
authors: Brockmann
authors: Heiko
authors: H
authors: Backes
authors: Bernd
authors: B
authors: Auber
authors: Thomas
authors: T
authors: Kriebel
authors: Franziska
authors: F
authors: Stellmer
authors: Barbara
authors: B
authors: Zoll
mesh_terms: D000293:Adolescent; D005260:Female; D020139:Gastroschisis / Q000150:complications*; D006214:Hallux / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000000981:diagnostic imaging; D008168:Lung / Q000002:abnormalities*; D008279:Magnetic Resonance Imaging; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D020331:Mobius Syndrome / Q000150:complications*; D011247:Pregnancy; D011859:Radiography