Bilateral cleft lip and palate associated with agenesis of the hand and distal forearm

We report on a child who was born with an incomplete bilateral cleft lip and palate associated with agenesis of the left hand and distal forearm. No other anomalies were noted. The patient was the first child of a term pregnancy with a negative family history, and the mother took no prenatal medications. Ultrasonogram performed at 34 weeks’ gestational age failed to detect any congenital anomalies. Thorough genetics evaluation, including chromosome analysis, showed no further abnormalities; the birth defects were believed to be nonsyndromic. To our knowledge, the association of bilateral cleft lip and palate with agenesis of the upper extremity has not been previously reported. Moreover, it is important to note that a prenatal ultrasonogram, even when performed late in the third trimester, may fail to detect these significant congenital anomalies.