TY - JOUR
T1 - Variable Expression in Focal Dermal Hypoplasia
T2 - An Example of Differential X-Chromosome Inactivation
AU - Wechsler, Marius A.
AU - Papa, Christopher M.
AU - Haberman, Frederick
AU - Marion, Robert W.
PY - 1988/3
Y1 - 1988/3
N2 - We encountered three women from three generations of the same family with features of focal dermal hypoplasia (FDH). Two of the patients, the proposita and her mother, demonstrated severe manifestations, including skin, dental, skeletal, and visceral abnormalities. The proposita's grandmother, the first family member affected, had very mild expression, with aplasia cutis congenita and dental caries as the only features expressed. This family illustrates both the marked variability of expression and the proposed X-linked dominant mode of inheritance of FDH. We postulate that early embryologic random inactivation of the X chromosome bearing the mutant gene responsible for FDH is the cause of the variable expression.
AB - We encountered three women from three generations of the same family with features of focal dermal hypoplasia (FDH). Two of the patients, the proposita and her mother, demonstrated severe manifestations, including skin, dental, skeletal, and visceral abnormalities. The proposita's grandmother, the first family member affected, had very mild expression, with aplasia cutis congenita and dental caries as the only features expressed. This family illustrates both the marked variability of expression and the proposed X-linked dominant mode of inheritance of FDH. We postulate that early embryologic random inactivation of the X chromosome bearing the mutant gene responsible for FDH is the cause of the variable expression.
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U2 - 10.1001/archpedi.1988.02150030067022
DO - 10.1001/archpedi.1988.02150030067022
M3 - Article
C2 - 3344717
AN - SCOPUS:0023831203
SN - 0096-8994
VL - 142
SP - 297
EP - 300
JO - American Journal of Diseases of Children
JF - American Journal of Diseases of Children
IS - 3
ER -