Abstract
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.
Original language | English |
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Pages (from-to) | 33-36 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics |
Volume | 123 A |
Issue number | 1 |
DOIs | |
Publication status | Published - 2003 Nov 15 |
Keywords
- Cubitus valgus
- Short philtrum
- X-linked mental retardation
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)