| Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia. | |
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MedLine Citation:
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PMID: 19938094 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Knut Brockmann; Heiko Backes; Bernd Auber; Thomas Kriebel; Franziska Stellmer; Barbara Zoll |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Dec |
Date Detail:
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Created Date: 2009-11-30 Completed Date: 2010-01-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2832-7 Citation Subset: IM |
Affiliation:
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Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Str. 40, 37075 G??ttingen, Germany. kbrock@med.uni-goettingen.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Female Gastroschisis / complications* Hallux / abnormalities, radiography Humans Infant Infant, Newborn Limb Deformities, Congenital / complications*, radiography Lung / abnormalities* Magnetic Resonance Imaging Male Mandible / abnormalities* Mobius Syndrome / complications* Pregnancy |
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