Bilateral cleft lip and palate and limb deformities: a presentation of amniotic band sequence?

Abstract

We report a case of a child born with bilateral complete cleft lip and palate, absence of the left lower leg, complete absence of the right arm, and absence of the second and third distal phalanges of the right foot. The child had no other associated abnormalities. Prenatal ultrasonography recognized the cleft lip and palate but failed to appreciate the limb deformities. Although this specific constellation of abnormalities has not been previously reported in the English literature, it may represent an amniotic band sequence or two unrelated anomalies. However, unlike the vast majority of patients with amniotic band sequence described, there were no associated bizarre facial clefts or cranial defects. The case history and a review of the literature will be presented, with emphasis placed on categorization of these specific anomalies.