A 29-YEAR-OLD Middle Eastern gravida 2 para 1 woman was referred for perinatal evaluation after a routine ultrasound at 21 weeks' gestation was suspicious for skeletal dysplasia (long bones measured <fifth percentile). Bilateral clubbed feet were also noted. Her family history was unremarkable, without a history of skeletal dysplasia. A detailed ultrasound at our institution revealed shortening of all long bones (<fifth percentile) as well as shortening of the fetal foot. The ribs measured at the 50th percentile for gestational age, and the chest circumference was at the 10th to 25th percentile. Bilateral syndactyly of the third, fourth, and fifth digits of the hands was suspected. The hands also had a no-table separation of the second and third digits(Figure 1). Bilateral clubbed feet with a rocker bottom appearance were noted. The right foot was thought to have polydactyly, and the toes of both feet appeared unusually long, except for the great toes, which appeared shortened. The fetal eyes protruded from the orbits. Results of fetal echocardiogram were normal. The karyotype was 46,XX. Cytogenetic studies for Robert syndrome were negative. An ultrasound obtained 13 days later had the additional finding of suspected polydactyly of both feet. The couple opted to terminate the pregnancy and underwent labor induction at 23 weeks' gestation. Autopsy findings (Figure 2) included short long bones of both the upper and lower extremities; short, stubby, tapered fingers; clinodactyly of the fifth fingers bilaterally; short, stubby, great toes bilaterally with wide space between the first and second toes; abnormal palmar creases; short, broad neck; micrognathia; and hypoplastic lungs. Radiography (Figure 3) revealed supernumerary ossification center between the proximal phalanx and the second metacarpal of the index finger.
Prosen T, Craven C, McPherson E, Hill LM, Hogge WA. Pathological Case of the Month. Arch Pediatr Adolesc Med. 2001;155(8):969-970. doi:10.1001/archpedi.155.8.969