Wu M H, Kuo P L, Lin S J
Department of Obstetrics and Gynecology, National Cheng-Kung University College of Medicine, Tainan, Taiwan, Republic of China.
Am J Med Genet. 1995 Jan 30;55(3):279-84. doi: 10.1002/ajmg.1320550307.
We describe a nonconsanguineous couple whose 3 successive pregnancies, including one pair of twins, led to the birth of 4 infants with short rib-polydactyly syndrome (SRPS). Flat face, hypoplastic thorax, short limbs and ribs, polydactyly, absence of penis, and death after birth were noted in the first affected male baby. The affected female twins were detected prenatally by ultrasonography and had the same characteristics, but milder than the previous one. Serial measurements of the thoracic circumference and the 4 limbs were obtained by ultrasound, and showed progressively decreased ratio of thoracic to abdominal circumference and shortness of the limbs. The last male baby also had a similar but variable expression in prenatal ultrasonography.
