Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies

We describe a male infant with intra-uterine growth retardation and multiple congenital anomalies including prominent forehead, broad nasal bridge, hypertelorism, small upturned nose, flat philtrum, micrognathia, cleft hard palate, low-set and posteriorly rotated ears, short neck, micropenis, hypoplastic scrotum with prominent raphe and undescended testes, malformed lower extremities with contractures, bony protruberance of left thigh, bilateral absence of the fibula, bilateral equinovarus deformity with missing 4th toe on the right foot and short second fingers, congenital heart defect, renal anomalies, brain malformation, and bilateral choanal atresia. He was born at term by cesarean section because of breech presentation to a 19-year-old gravida 2 para 1 African-American female who had no prenatal care. He was admitted to the NICU because of low birth weight, respiratory distress, rule out sepsis and multiple congenital anomalies. Birth weight was 1,475 g, birth length was 33.8 cm, and head circumference was 30 cm. He expired at 5.5 weeks of age. The parents declined a request for autopsy. Chromosome analysis on blood showed that his karyotype was 46,XY, del(8)(q11.23q13.3). FISH studies for 22q deletion were normal. Parental karyotypes were normal. There is a paucity of reported patients with this specific chromosome disorder and this boy appears to be severely affected compared with the few published cases. A gene on chromosome 8q may be involved in limb development.