A familial syndrome with micrognathia, cleft palate, short neck and stature, vertebral anomalies and mental retardation

Genet Couns. 1993;4(4):299-303.

Abstract

We report on a male adult and his son both affected with hitherto undescribed multiple congenital anomalies and mental retardation. Both have peculiar facies, cleft palate, short sature, congenital brevicollis and vertebral abnormalities. Chromosomal analysis is normal and an autosomal dominant mode of inheritance is most likely. Genetic aspects and clinical manifestations are compared with those of previous reports of Robin sequence or cleft palate, short stature and vertebral dysostosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adult
  • Cervical Vertebrae / abnormalities*
  • Child, Preschool
  • Cleft Palate / diagnosis
  • Cleft Palate / genetics*
  • Facial Asymmetry / diagnosis
  • Facial Asymmetry / genetics
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Micrognathism / diagnosis
  • Micrognathism / genetics*
  • Pedigree
  • Phenotype