European Journal of Pediatrics

, Volume 133, Issue 2, pp 123–129

Poly-, syn- and oligodactyly, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs—A new autosomal recessive syndrome

  • W. Fuhrmann
  • A. Fuhrmann-Rieger
  • F. de Sousa
Original Investigations

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.

Key words

Congenital bowing of femora Dislocation of hips Fibula aplasia/hypoplasia Polydactyly Hypodactyly Nail dysplasia Interphalangeal joint limitation Autosomal recessive inheritance 

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Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • W. Fuhrmann
    • 1
  • A. Fuhrmann-Rieger
    • 1
  • F. de Sousa
    • 2
  1. 1.Institut für HumangenetikJustus-Liebig-Universität GiessenGiessenFederal Republic of Germany
  2. 2.Zentrum für Kinderheilkunde derJustus-Liebig-Universität GiessenGiessenFederal Republic of Germany

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