Pierre Robin sequence with unilateral anophthalmia and lower limb oligodactyly: an unusual presentation of ophthalmoacromelic syndrome?

摘要

We report a 7-month-old female patient born to consanguineous parents as a full-term normal delivery. She has two healthy elder brothers. Her mother also had stillbirth of a female child at 7 months of gestation.Our patient presented with left clinical anophthalmia (Fig. 1). The right eye had fix-and-follow vision with arefractive error + 5.50 DS. Anterior segment was within normal limits. Fundus examination of the right eye showed a disc anomaly (Fig. 2). The patient has poor nutritional history owing to a cleft soft palate (Fig. 3). On systemic evaluation we found Pierre Robin sequence (PRS). PRS consists of the association of micrognathia, cleft palate and glossoptosis. It also includes respiratory and feeding difficulties that appear to be neurogenic rather than mechanical in causation. The other finding of significance was oligodactyly, with four toes in both feet and absence of associated metacarpals in both feet (Fig. 4).