No 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).

Raine syndrome is a very rare autosomal recessive disorder characterized by osteosclerosis, periosteal bone formation and distinct facial abnormalities that include microcephaly and low set ears osteosclerosis, cleft palate, gum hyperplasia, broad and depressed nasal bridge and proptosis. Patients affected with this syndrome have a mutation in FAM20C gene located on 7p22.3. This gene is responsible for phosphorylation of Serine residues on an enzyme casein kinase which helps in mineralisation of the bones.