RGUHS Nat. J. Pub. Heal. Sci Vol: 14 Issue: 4 eISSN: pISSN
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Varadaraju DN, Satish Babu HV, Savitr Sastrii, Ananth G
Department of Neuro-Surgery, Vydehi Institute of Medical Sciences and Research Center, Bengaluru.
Abstract
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. We present here a case of 6 month old male child with history of feeding difficulties and nasal regurgitation of feeds, recurrent episodes of cough since birth. There was abnormal shape of the head and webbing of fingers and toes. There was one episode of convulsion at the age of 5 montha. There was vomiting since 2 days. Examination revealed brachycephaly with prominent eyes, downward slanting, flat forehead, proptosis, epicanthic folds, hypertelorism, low set ears, short and depressed nasal bridge, mid facial hypoplasia, cleft palate, and sSyndactyly. Both upper and lower limbs exhibited mild developmental delay for the age. The condition was diagnosed as Apert syndrome. Patient underwent “Fronto-orbital advancement and cranial remodeling." At sixth month follow-up the child was conscious and alert, Anthropometric examination revealed weight- 12 kg, Height -78 cms, Head circumference- 46 cms. And developmental assessment showed the child walking with support; pincer grasp was present, and the child was playing a simple ball game. At age of one year the physical and mental developments were almost normal.
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