Seckel's syndrome- a rare entity

Abstract

An 8-year-old girl child, first by birth order, born of nonconsanguineous marriage, presented to pediatric OPD with complaints of not gaining height and weight. There was no history suggestive of any chronic infection. She was a full term, normal delivered baby with a low birth weight of 2.1 kg. There was no history of any intrauterine infections or exposure to drugs/radiation in the antenatal period. She was developmentally normal for her age. Other sibling was normal. On examination, she had marked growth failure with microcephaly. Height (107 cm against an expected of 120 cm), weight (15 kg against an expected of 22 kg) and head circumference (48 cm against an expected of 53 cm) were below 3 rd centile as per WHO growth chart. Systemic examination was normal. The child had a characteristic hypoplastic facies with a prominent nose, small jaw(micrognathia) that was recessed back(retrognathia) and low-set ears (Figure 1). Bilateral 4th fingers were permanently fixed in