APERT SYNDROME
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.
Case Report
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 fontanelle, 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).

Discussion
Apert's syndrome named after a French physician E. Apert, who first described it in 1906, is a relatively uncommon craniofacial anomaly - 1. It occurs with frequency of one per 160,000 live births. Apert's syndrome has been rarely reported from India. 2. 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 mutation. 3. 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 aminoacids 1. An association between this disorder and high parental age has been observed. 4. 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 acrocephaly.

5. 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 nevus. 7. Skin, eyes and hair may show pigmentary dilution. 8. 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.
References :
  1. Harper JI. Genetics and genodermatoses. In: Champion RH, Burton JL, Burns D, Breathnach SM, editors. Rook/Wilkinson/Ebling Textbook of dermatology. 6th ed. Oxford: Blackwell Science; 1998: 425-6.
  2. Sohi BK, Sohi AS. Apert's syndrome. Indian J Dermatol Venereol Leprol 1980;46:169-72.
  3. Cunliffe WJ. Acne. In: Harper J, Orange A, Prose N, editors. Textbook of pediatric dermatology. Oxford: Blackwell Science; 2000: 639-54.
  4. Hosking G. An introduction to paediatric neurology. 1st ed. London: Faber and Faber; 1982.
  5. Henderson CA, Knaggs H, Clark A, Highet AS, Cunliffe WJ. Apert's syndrome and androgen receptor staining of the basal cells of sebaceous glands. Br J Dermatol 1995;132:139-43.
  6. Solomon LM, Fretzin D, Pruzansky S. Pilosebaceous abnormalities in Apert's syndrome. Arch Dermatol 1970;102: 381-5.
  7. Munro CS, Wilkie AO. Epidermal mosaicism producing localized acne: somatic mutation in FGFR2. Lancet 1998;352: 704-5.
  8. Margolis S, Seigel IM, Choy A, Breinin GM. Depigmentation of hair, skin and eyes associated with the Apert syndrome. Birth Defects 1978;14:341-60.
  9. Mukhopadhyay AK, Mukherjee D. Apert's syndrome.Indian J Dermatol Venereol Leprol 2004;70:105-107.
Last Updated : Wednesday, June 01, 2005 Vol 2 Issue 6 Art #29
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Awasthy N, Gupta H. APERT SYNDROME. Pediatric Oncall [serial online] 2005[cited 2005 June 1];2. Art #29. Available From : http://www.pediatriconcall.com/Journal/Article/FullText.aspx?artid=724&type=J&tid=&imgid=&reportid=183&tbltype=
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