ISSN:
1432-1076
Keywords:
Primordial overgrowth
;
Macrocephaly
;
Accelerated osseous maturation
;
Abnormalities of face and skeleton
;
Weaver syndrome
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00443257
Permalink
