Dr Ira Shah
M.D, DNB, DCH(Gold Medalist), FCPS

Keywords:Irregular craniosynostosis, syndactyly, midfacial hypoplasia

A Day 1 female child presented with multiple congenital deformities. She was a full term normal vaginal delivery with birth weight of 2.3 kg and cried immediately after birth. She had dysmorphic features in the form of flat facial profile, depressed nasal bridge, prominent eyes, and complete syndactyly of all 4 limbs with wide open anterior and posterior fontanelles and low set ears. She was suspected to have APERTS syndrome in view of acrocephalosyndactyly. A CT brain on 3D study showed complete fusion of coronal sutures with partial fusion of lambdoid suture. There was compensatory widening of anterior and posterior fontanelle with normal brain parenchyma. 2D Echo of heart was normal and ultrasound of kidneys showed no renal anomalies. On follow up, the milestones were delayed with social smile being achieved at 3 months and head holding at 4 months. A craniofacial surgery was performed at 10 months in view of craniosynostosis and limb reconstruction was planned after the child was one year old. Parents were counseled regarding risk in subsequent pregnancy.

This condition was first described by Wheaton in 1894. In 1906, Apert described 9 cases of acrocephalosyndactyly.

These children presented with irregular craniosynostosis with high, full forehead and flat occiput and early fusion of the coronal sutures. The fontanelles are large and close late. They have flat facies, shallow orbits, hypertelorism, strabismus, small nose, maxillary hypoplasia, and a narrow palate with or without a bifid uvula.

These children have varying form of osseous and/or cutaneous syndactyly leading to total or partial fusion of fingers and toes. Sometimes there may be synostosis of radius and humerus. Mental deficiency may be present or may be normal.

Other associated anomalies that may be seen are pyloric stenosis, ectopic anus, pulmonary aplasia, pulmonary arterial and valve abnormality, heart defects, polycystic kidneys and bicornuate uterus.

The major complication is increased intracranical pressure due to craniosynostosis for which early surgery may be required. Since it is an autosomal dominant condition with most cases being fresh mutations, the recurrence risk for unaffected parents of a child with Apert syndrome is negligible whereas it is 50% for the offspring of affected individual. Older paternal age is postulated as one of the risk factors.