| Microcephaly associated with Legg-Calvè-Perthes disease in two siblings. | |
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MedLine Citation:
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PMID: 22222936 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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The co-occurrence of microcephaly and Legg-Calvè-Perthes disease (LCPD) in members of the same family has been previously recorded only in two Hungarian brothers. To study the clinical and radiological phenotype in a (second) family with LCPD and microcephaly, clinical, X-ray and MRI follow-up study of two Albanian siblings aged 8 and 11 years, were made. Both siblings had primary microcephaly, seizures and mild-to-moderate mental retardation. At head imaging the boy was found to have skull asymmetry, partial lack of frontal lobe development and partial agenesis of corpus callosum and the girl had a complex brain malformation consisting in thickening of the fronto-temporal cortex, colpocephaly, increased curvature of the Sylvian fissure, elevated tentorium with mild hypoplasia of the cerebellar vermis and dilated cisterna magna. In addition, the brother had ADHD and the sister minor eye anomalies mainly consisting in epicanthic folds and pale bilateral (temporal) optic disk. We recorded (and documented for the first time by brain MRI) a second family with familial co-occurrence of LCPD and microcephaly and the first occurrence of complex brain anomalies in the context of a small head circumference. The present report could encourage the observation of similar cases. |
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Authors:
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Salvatore Savasta; Martino Ruggieri; Piero Pavone; Andrea Domenico Praticò; Agata Polizzi; Giampiero Beluffi; Vito Pavone |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-1-6 |
Journal Detail:
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Title: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology Volume: - ISSN: 1590-3478 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-1-6 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100959175 Medline TA: Neurol Sci Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Pediatrics, IRCCS San Matteo Hospital, University of Pavia, Pavia, Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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