| Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations. | |
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MedLine Citation:
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PMID: 22140078 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We describe a newborn girl with multiple congenital anomalies and abnormal phenotype comprising underdeveloped corpus callosum with ventriculomegaly, chorioretinal atrophy, pulmonary arterial hypertension, annular pancreas, horseshoe kidney, asymmetric limb and chest anomalies, spinal segmentation defects, hypertrichosis, and unusual face with large anterior fontanel, high anterior hairline, broad forehead, mildly underdeveloped midface, hypertelorism, depressed nasal bridge, short and upturned nose, large mouth, retrognathia, and large and malformed ears. Work-up included cytogenetic studies of lymphocytes and skin fibroblasts, subtelomere Multiplex Ligation-dependent Probe Amplification (MLPA), whole-genome oligo-array, and molecular analysis of SETBP1 and NSDHL: no abnormalities were found. Mucopolysaccharide urinary excretion was elevated. Results of metabolic studies for sterol and peroxisomal abnormalities in fibroblasts were normal. Additional electronic microscopy studies in skin fibroblasts did not show evidence for storage in fibroblasts or lysosomal changes. Nosologic considerations allowed exclusion of Schinzel-Giedion and Urioste syndrome. This condition seems not to have been described before; a segregating Mendelian mutation is assumed. © 2011 Wiley Periodicals, Inc. |
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Authors:
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Grétel Oudesluijs; Marleen E H Simon; Rianne H J Burggraaf; Hans R Waterham; Raoul C M Hennekam |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-12-2 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-12-5 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Wiley Periodicals, Inc. |
Affiliation:
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Department of Clinical Genetics, Erasmus Medical Center, University Medical Center, Rotterdam, The Netherlands. g.oudesluijs@erasmusmc.nl. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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