Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome.
An apparently hitherto undescribed, severe skeletal syndrome is reported in 3 siblings (2 boys, 1 girl) in a family of Turkish-Arabian descent. Major manifestations include: hypoplasia of the pelvis, congenital dislocation of the hip, severe bowing of femora, aplasia or hypoplasia of fibulae, absence or coalescence of tarsal bones, absence of various metatarsals, hypoplasia and aplasia of toes, clinodactyly, hypoplasia of fingers and fingernails, and postaxial polydactyly. Consanguinity is denied, but the fact that both parents belong to the same Christian minority from the same province may indicate common ancestry. Autosomal recessive inheritance is presumed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D005260:Female; D005269:Femur / Q000002:abnormalities; D005360:Fibula / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006618:Hip Dislocation, Congenital / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010384:Pelvic Bones / Q000002:abnormalities; D013577:Syndrome