Craniosynostosis with symmetrical syndactyly (Apert syndrome)

Abstract

We report a term male infant weighing 3100 g, appropriate for gestational age, born to a 27-year-old woman out of 4 th degree consanguinity by lower segment caesarean section with an uneventful gestational period and delivery.Clinical examination revealed facial dysmorphism, brachycephaly with craniosynostosis of coronal sutures, protruding forehead with a beaked nose, hypertelorism, bilateral orbital proptosis and midfacial hypoplasia along with syndactyly [Figure 1]. Complete fusion of the bones of the second to the fourth fingers, and one single, continuous nail, the so-called "mitten hand" syndactyly. [1] After he developed pooling of secretions and respiratory distress with stridor which increased at rest, he was operated for choanal atresia and was on room air by the 3 rd post-operative day. Neurologically, neonatal reflexes, muscle tone and power were acceptable.The baby is currently planned for surgical correction of craniosynostosis in early infancy and a genetic study for a final diagnosis (Apert syndrome, Crouzon syndrome or Pffeifer syndrome).