| Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome? | |
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MedLine Citation:
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PMID: 19182162 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a combination of multiple congenital anomalies, a severe psychomotor retardation and seizures in a 9-year-old Tunisian boy with circumferential ringed skin creases. He had symmetrical circumferential skin creases on arms, legs, and penis. Craniofacial anomalies included: an elongated face, tight forehead, hypertelorism, bilateral epicanthic folds, upslanting palpebral fissures, microphthalmia, convergent strabismus, wide nasal bridge, aberrant teeth, dental caries, and low-set posteriorly rotated ears with overfolded thick helices. He had also ureterocele, hypospadias, and others anomalies. The magnetic resonance imaging of the brain showed hypoplastic vermis, hypoplastic corpus callosum, and dilatation of ventricles. Chromosomal analysis revealed a normal male karyotype with 46,XY. Skin biopsy was normal. To the best of our knowledge, this combination of anomalies has not been reported and this case may be a unique syndrome. |
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Authors:
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Faten Tinsa; Khaoula Aissa; Mounira Meddeb; Dorra Bousnina; Khadija Boussetta; Souad Bousnina |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of child neurology Volume: 24 ISSN: 1708-8283 ISO Abbreviation: J. Child Neurol. Publication Date: 2009 Feb |
Date Detail:
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Created Date: 2009-02-02 Completed Date: 2009-05-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 224-7 Citation Subset: IM |
Affiliation:
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Department of Pediatrics of the Children's Hospital of Tunis, Tunis, Tunisia. faten.tinsa@hotmail.fr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Brain / pathology Child Craniofacial Abnormalities / pathology Humans Karyotyping Magnetic Resonance Imaging Male Mental Retardation* Skin / pathology Skin Abnormalities* / pathology Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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