Demirhan et al. (2005) reported a 16-year-old girl from a multiconsanguineous family who had a severe limb malformation consisting of severe brachydactyly with radial deviation of the fingers, ulnar deviation of the hands, fusion of the carpal/tarsal bones, ... Demirhan et al. (2005) reported a 16-year-old girl from a multiconsanguineous family who had a severe limb malformation consisting of severe brachydactyly with radial deviation of the fingers, ulnar deviation of the hands, fusion of the carpal/tarsal bones, aplasia of the fibula, and bilateral clubfoot deformity with small broad feet and short toes that appeared constricted at their bases. In addition, she had genital anomalies and primary amenorrhea; ultrasound examination revealed absence of the ovaries and hypoplasia of the uterus, and endocrinologic studies confirmed hypergonadotropic hypogonadism.
In a 16-year-old girl from a multiconsanguineous family who had acromesomelic chondrodysplasia and genital anomalies, Demirhan et al. (2005) identified homozygosity for an 8-bp deletion in the BMPR1B gene (603248.0003). Both parents and 2 sibs were heterozygous for ... In a 16-year-old girl from a multiconsanguineous family who had acromesomelic chondrodysplasia and genital anomalies, Demirhan et al. (2005) identified homozygosity for an 8-bp deletion in the BMPR1B gene (603248.0003). Both parents and 2 sibs were heterozygous for the deletion.