| The Weaver syndrome: a rare type of primordial overgrowth. | |
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MedLine Citation:
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PMID: 7318839 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported. Two cases in the literature- referred to as Weaver syndrome- exhibited nearly identical anomalies. All three cases were sporadic. Main symptoms of the Weaver syndrome are increased birth weight, early overgrowth, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay. Further symptoms are thin, deep-set nails, talipes equinovarus, widened distal femora, and some minor abnormalities. A second boy with primordial overgrowth and macrocephaly demonstrated some, but not all, the symptoms of this syndrome. Whether this boy showed a milder expression of the Weaver syndrome or benign familial macrocephaly is discussed. |
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Authors:
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F Majewski; M Ranke; H Kemperdick; E Schmidt |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: European journal of pediatrics Volume: 137 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 1981 Nov |
Date Detail:
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Created Date: 1982-03-13 Completed Date: 1982-03-13 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: GERMANY, WEST |
Other Details:
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Languages: eng Pagination: 277-82 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis* Bone Diseases, Developmental / complications Face / abnormalities Growth Disorders / complications, diagnosis* Humans Infant Male Muscle Hypertonia / complications Skull / abnormalities Syndrome |
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