A familial dysmorphic condition with hypotonia, seizures and precocious puberty

Clin Dysmorphol. 2008 Jul;17(3):161-164. doi: 10.1097/MCD.0b013e328302f0c4.

Abstract

Three siblings are described with a distinct phenotype characterized by dysmorphic facial features, profound hypotonia, seizures and precocious puberty. No cause has been identified in spite of numerous investigations, including array-comparative genomic hybridization at a resolution of 1 Mb. Autosomal recessive inheritance is a possibility given that three siblings of both sexes are affected.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / pathology*
  • Epilepsy / genetics
  • Epilepsy / pathology*
  • Family Health
  • Fatal Outcome
  • Female
  • Genes, Recessive
  • Genomics
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Magnetic Resonance Imaging
  • Male
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / pathology*
  • Phenotype
  • Puberty, Precocious / genetics
  • Puberty, Precocious / pathology*