Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome

Am J Med Genet. 1990 Sep;37(1):133-5. doi: 10.1002/ajmg.1320370131.

Abstract

We report on 2 sibs, a male and a female, who died shortly after birth from respiratory failure. They combined growth retardation with a Potter-like face, complete phocomelia of the upper limbs, rib anomalies (mainly severe hypoplasia of the 6 upper ribs), renal dysplasia, and external genital abnormalities. We hypothesize that these cases represent evidence for the existence of the "new syndrome" described by Ulbright et al. (Am J Med Genet 17:667-668, 1984). This syndrome appears lethal because of the severe renal dysplasia that causes oligohydramnios and pulmonary hypoplasia. Its mode of inheritance seems to be autosomal recessive.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Ectromelia / genetics
  • Face / abnormalities
  • Female
  • Fetal Growth Retardation / genetics
  • Genes, Lethal
  • Genes, Recessive
  • Genitalia / abnormalities
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities*
  • Limb Deformities, Congenital*
  • Male
  • Syndrome