Document Detail


The Weaver syndrome: a rare type of primordial overgrowth.
MedLine Citation:
PMID:  7318839     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
F Majewski; M Ranke; H Kemperdick; E Schmidt
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European journal of pediatrics     Volume:  137     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1981 Nov 
Date Detail:
Created Date:  1982-03-13     Completed Date:  1982-03-13     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  277-82     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis*
Bone Diseases, Developmental / complications
Face / abnormalities
Growth Disorders / complications,  diagnosis*
Humans
Infant
Male
Muscle Hypertonia / complications
Skull / abnormalities
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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