Craniosynostosis with symmetrical syndactyly (Apert syndrome)
How to cite this article: Sundararaju S, More K. Craniosynostosis with symmetrical syndactyly (Apert syndrome). Wadia J Women Child Health 2022;1(1):47-8.
We report a term male infant weighing 3100 g, appropriate for gestational age, born to a 27-year-old woman out of 4th 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.
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 3rd 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).
Dr. Dhaval Kapadia, NICU Fellow.
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The authors certify that they have obtained all appropriate patient consent.
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