Familial congenital brachial palsy: a report of two affected Egyptian families

Genet Couns. 2004;15(1):27-36.

Abstract

Congenital brachial palsy is still a relatively common birth defect and almost a sporadic disorder. This work presents 2 unrelated Egyptian families; had several members in successive generations with severe unilateral congenital brachial palsy. Pedigree analysis of both families and the high rate of consanguinity among them are highly suggestive of autosomal recessive inheritance with variable expression.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosomes, Human, X / genetics
  • Electromyography
  • Female
  • Humans
  • Male
  • Myelin Proteins / genetics*
  • Paresis / diagnosis
  • Paresis / genetics*
  • Paresis / physiopathology
  • Pedigree
  • Upper Extremity / innervation
  • Upper Extremity / physiopathology

Substances

  • Myelin Proteins
  • PMP22 protein, human