Electronic Resource
Springer
European journal of pediatrics
138 (1982), S. 317-320
ISSN:
1432-1076
Keywords:
Multiple anomalies
;
Dysplasia of the ears
;
Anonychia
;
Aplasia of the fibula
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Two male sibs exhibit peculiar dysplasia of the ears, partial aplasia of the nails, and aplasia or hypoplasia of the fibulae. Gross motor development is severely impaired due to contractures of the hip, knee and ankle joints. Minor craniofacial abnormalities and immobility of several interphalangeal joints are also noted in this “new” syndrome which may be due to a rare recessive allele, probably autosomal.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442507
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