X-Linked Cubitus Valgus With Mental Retardation and Typical Face

Kenneth Lyons Jones, Kenjiro Kosaki, Bryan D. Hall

研究成果: Article査読

抄録

In 1973, Jones and Smith described two maternal male first cousins with a similar pattern of malformation, including mental retardation, cubitus valgus, and unusual facies. The purpose of this report is to describe three additional cases, a 10-year-old male and his 30-year-old maternal uncle and an unrelated 15-year-old boy, bringing to five the total number of individuals with this disorder. The principal features include moderate mental retardation, mild microcephaly, a short philtrum, deep-set, downslanting palpebral fissures, multiple nevi, and striking cubitus valgus. Documentation of this disorder in two maternal male first cousins as well as in a male and his maternal uncle support an X-linked recessive mode of inheritance for this condition.

本文言語English
ページ(範囲)33-36
ページ数4
ジャーナルAmerican Journal of Medical Genetics
123 A
1
DOI
出版ステータスPublished - 2003 11 15

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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