Neeraj Awasthy, Harsh Gupta
Department of Pediatrics, Safdarjung Hospital and Vardhman Mahavir Medical college, New Delhi, India

Address for Correspondence: Dr Neeraj Awasthy, 123, Anandkunj, Vikaspuri, New Delhi- 110018. Email: n_awasthy@yahoo.com

Abstract: Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, mid-facial malformations and symmetrical syndactyly. We present an 11-month-old boy having all the features of classical Apert's syndrome.

An 11-month-old male child presented with noisy breathing, abnormal shape of the head, webbed fingers and mild developmental delay. On examination, he had brachycephaly, flat occiput, wide anterior fontanalle, hypertelorism, high arched palate and syndactyly involving 2nd, 3rd and 4th digits of both the hands. Child was diagnosed and operated for coronal craniosynostosis at 7 months of age. This time on investigation, CT head revealed recurrence of craniosynostosis. Chest X-ray, ECG, and Echo detected dextrocardia. Collectively all findings were diagnostic of Acrocephalosyndactyly type 1 or Apert's syndrome (Figure 1).

Apert's syndrome named after a French physician E. Apert, who first described it in 1906, is a relatively uncommon craniofacial anomaly1. It occurs with frequency of one per 160,000 live births. Apert's syndrome has been rarely reported from India2.The condition may be inherited with a frequency of 50% in the offspring of an affected adult or more commonly develops as a result of spontaneous mutation3. With the rare exceptions, Apert's syndrome in all reported cases has been caused by recurrent missence mutations of the fibroblast growth factor receptor 2 gene involving 2 adjacent aminoacids1. An association between this disorder and high parental age has been observed4. Apert's syndrome is thought to occur as a result of androgen end organ hyper-response affecting the epiphyses and sebaceous glands. This results in early epiphyseal fusion resulting in short stature, short and fused digits and acrocephaly5.

The clinical features are characterized by early fusion of skull bones, mainly coronal sometimes lambdoid, midface regression and webbed digits (syndactyly). Syndactyly always involves fusion of the soft tissues of the first, middle and ring fingers. Thumb may be fused with the rest or may be free.

Commonly associated features include cardiac anomalies, visual and hearing defects, cleft palate and varying degree of acne. Acne is severe, extensive and resistant to treatment. In one series, seven of nine patients developed moderate to severe acne at puberty and had lesions on the arms and forearms in addition to the commonly affected sites 6 .The defect of FGFR2 which is found in Apert's syndrome is also recorded in the acneform lesions in Munro nevus7. Skin, eyes and hair may show pigmentary dilution8. Other cutaneous abnormalities reported are hyperhidrosis and oculocutaneous albinism. There is reduced intellectual capacity in some individuals. Cerebral cortical atrophy with dilation of the lateral ventricle may lead to mental subnormality.

Treatment involves multidisciplinary teamwork including Craniofacial surgeon, Neurosurgeon, Pediatrician, Speech pathologist, and an Orthodontist. Correction of hypertelorism can be undertaken by a facial advancement operation. These children invariably need speech therapy after the surgical correction of abnormalities is done.

Last updated: 1-06-2005 Vol 2 Issue 6 Art # 29