Acro-renal-mandibular syndrome

Am J Med Genet. 1980;5(3):277-84. doi: 10.1002/ajmg.1320050310.

Abstract

We report two female sibs, with severe split-hand/split-foot malformation associated with renal and genital anomalies. The patients also have severe mandibular hypoplasia and some other, minor anomalies. The relationship to the acro-renal "syndrome" in particular and to other phenotypes with similar malformations in general is discussed. Because of consanguinity in the parents, autosomal recessive inheritance seems likely. However, the presence of a septate uterus in the mother and a double collecting system in the only living sib could also suggest possible dominant inheritance with variable expressivity.

Publication types

  • Case Reports

MeSH terms

  • Consanguinity
  • Female
  • Foot Deformities, Congenital*
  • Genitalia, Female / abnormalities
  • Hand Deformities, Congenital*
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities*
  • Mandible / abnormalities*
  • Orofaciodigital Syndromes / genetics
  • Pedigree