Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes

Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):49-56. doi: 10.1002/ajmg.c.10013.

Abstract

Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Central Nervous System / abnormalities
  • Diagnosis, Differential
  • Growth Disorders / diagnosis*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / diagnosis*
  • Syndrome