TY - JOUR
T1 - X-Linked Cubitus Valgus With Mental Retardation and Typical Face
AU - Jones, Kenneth Lyons
AU - Kosaki, Kenjiro
AU - Hall, Bryan D.
PY - 2003/11/15
Y1 - 2003/11/15
N2 - 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.
AB - 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.
KW - Cubitus valgus
KW - Short philtrum
KW - X-linked mental retardation
UR - http://www.scopus.com/inward/record.url?scp=0142170028&partnerID=8YFLogxK
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U2 - 10.1002/ajmg.a.20494
DO - 10.1002/ajmg.a.20494
M3 - Article
C2 - 14556244
AN - SCOPUS:0142170028
VL - 123 A
SP - 33
EP - 36
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -