A new recessive syndrome of unusual facies and multiple structural abnormalities

J Med Genet. 1991 Sep;28(9):633-5. doi: 10.1136/jmg.28.9.633.

Abstract

Two sibs with a similar pattern of dysmorphic facial features and multiple structural abnormalities are reported. Both had a normal karyotype. The parents are first cousins and neither shows any stigmata of the disorder. In view of the consanguinity and pattern of malformations, autosomal recessive inheritance seems likely.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Brain / abnormalities
  • Consanguinity
  • DiGeorge Syndrome / diagnosis
  • Diagnosis, Differential
  • Face / abnormalities*
  • Female
  • Fetal Diseases / genetics
  • Fetal Diseases / pathology
  • Genes, Recessive
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Muscular Atrophy / diagnosis
  • Muscular Atrophy / genetics*
  • Spinal Muscular Atrophies of Childhood / diagnosis
  • Viscera / abnormalities