Two siblings with Tel Hashomer camptodactyly and mitral valve prolapse.
A brother and sister with Tel Hashomer camptodactyly and mitral valve prolapse are described. Mitral valve prolapse is heterogenous, but appears to occur more frequently in individuals with connective tissue disorders. The presence of mitral valve prolapse as a component manifestation of Tel Hashomer camptodactyly suggests that abnormal connective tissue is a pleiotropic effect of the mutant allele.
Blodgett Memorial Medical Center, Butterworth Hospital, Grand Rapids, MI.
H V
HV
Toriello
J V
JV
Higgins
T
T
Malvitz
D F
DF
Waterman
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002648:Child; D005260:Female; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D008945:Mitral Valve Prolapse / Q000150:complications* / Q000235:genetics; D013577:Syndrome