A form of X-linked mental retardation with marfanoid habitus

J. E. Lujan, M. E. Carlin, H. A. Lubs

Research output: Contribution to journalArticle

51 Scopus citations

Abstract

A kindred has been studied in which mental retardation and marfanoid clinical features are present in several individuals. The pedigree is consistent with X-linked recessive inheritence. Four affected males aged 12-18 years and four obligate carriers have been identified. Clinical findings in the 4 affected males included a tall slender habitus, (3) (the fourth was tall but muscular), a long-narrow face (3), large head (4), highly arched palate (4), small mandible (4), abnormal speech (4), hypernasal voice (3), joint hyperextensibility (3), borderline to large testes (3), pectus excavatum (2), atrial septal defect (1), and a double row of teeth (1). Mental retardation (4) ranged form mild to severe; abnormal behavior included hyperactive and aggressive behavior (2), autistic-like (1) and jovial behavior (1). One and possibly two, males had absence of corpus callosum. Chromosome studies on all were normal; no marker X was observed. We believe this family probably represents a new form of X-linked mental retardation.

Original languageEnglish (US)
Pages (from-to)311-322
Number of pages12
JournalAmerican Journal of Medical Genetics
Volume17
Issue number1
DOIs
StatePublished - Jan 1 1984

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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