T. Ohzeki et al., BRACHYDACTYLY TYPE-A-4 (TEMTAMY TYPE) WITH SHORT STATURE IN A JAPANESE GIRL AND HER MOTHER, American journal of medical genetics, 46(3), 1993, pp. 260-262
We report on a Japanese girl and her mother with brachydactyly. Their
2nd and 5th middle phalanges were short and the latter was fused with
the distal phalanx in one of the patients. Length and shape of proxima
l and distal phalanges as well as metacarpals seemed normal. These fin
dings are consistent with brachydactyly type 4-A, which is a rare subt
ype and has not been adequately documented. Short stature was reported
only in some cases of brachydactyly type A-1, A-6, C, and E, but not
in the other subtypes. Our patients with type A-4 brachydactyly also h
ad short stature.