A clinical follow-up of British patients with FG syndrome

C. Romano, M. Baraitser, E. Thompson

Research output: Contribution to journalArticle

Abstract

The FG syndrome is an X-linked recessive mental retardation syndrome. Ten patients are reviewed with special emphasis on the natural history of the intellectual development, constipation, and the prognosis for growth and behaviour. Six out of 10 patients are still macrocephalic, and there is no evidence for a specific growth pattern with respect to height. The degree of mental retardation is usually severe. The behaviour is characteristically friendly, sociable and over-talkative, with periodic aggression. Six patients have seizures. A characteristic progression seems to occur from congenital hypotonia with joint hyperlaxity at birth, to joint contractures with apparent spasticity and unsteady gait later in life. The constipation was a temporary problem in five cases. The cowlick and the fetal pads persist and are important, but not specific, for the diagnosis.

Original languageEnglish
Pages (from-to)104-114
Number of pages11
JournalClinical Dysmorphology
Volume3
Issue number2
Publication statusPublished - 1994

Keywords

  • FG
  • follow-up
  • mental retardation syndrome
  • X-linkage

ASJC Scopus subject areas

  • Anatomy
  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health

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