ISSN:
1432-1076
Keywords:
Congenital bowing of femora
;
Dislocation of hips
;
Fibula aplasia/hypoplasia
;
Polydactyly
;
Hypodactyly
;
Nail dysplasia
;
Interphalangeal joint limitation
;
Autosomal recessive inheritance
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract An apparently hitherto undescribed, severe skeletal syndrome is reported in 3 siblings (2 boys, 1 girl) in a family of Turkish-Arabian descent. Major manifestations include; hypoplasia of the pelvis, congenital dislocation of the hip, severe bowing of femora, aplasia or hypoplasia of fibulae, absence or coalescence of tarsal bones, absence of various metatarsals, hypoplasia and aplasia of toes, clinodactyly, hypoplasia of fingers and fingernails, and postaxial polydactyly. Consanguinity is denied, but the fact that both parents belong to the same Christian minority from the same province may indicate common ancestry. Autosomal recessive inheritance is presumed.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00441580
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