Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome?

Am J Med Genet A. 2009 May;149A(5):1001-5. doi: 10.1002/ajmg.a.32805.

Abstract

We report on a 4-year-old boy with mental retardation, facial and skeletal anomalies, cerebral angiomas, femoral nucleus necrosis, mild biochemical abnormalities. This complex of features resembles the Hall-Riggs syndrome but could represent a novel syndrome.

Publication types

  • Case Reports

MeSH terms

  • Brain Neoplasms / diagnosis*
  • Brain Neoplasms / genetics
  • Central Nervous System Venous Angioma / diagnosis*
  • Central Nervous System Venous Angioma / genetics
  • Child, Preschool
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics
  • Facies*
  • Femur / abnormalities*
  • Fingers / abnormalities*
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Male
  • Osteonecrosis / diagnosis*
  • Osteonecrosis / genetics
  • Syndrome