Floating Harbor Syndrome

Excerpt

To the Editor: A six and a half years old boy presented with growth failure and delay in achieving milestones. He was born at term with a birth weight of 2.25 kg (−2SD) with no perinatal complications. His development was delayed in all spheres with more significant language delay. He sat at 18 mo, walked at 2.5 y, started speaking bisyllables at 3 y and short sentences at 4 y. On evaluation at four and half years, he was toilet trained and developmental age corresponded to 4 y. His height was 92.5 cm (−5.5 SD) and proportionate. Weight was 11 kg (−4.5 SD) and head circumference was 50 cm (−0.6 SD). He had dolicocephaly with prominent forehead, deep set eyes, thin vermillion border of the upper lip, prominent ears and nose with overhanging columella (Fig. 1a). Fingers were short and stubby. Systemic examination was normal. His bone age corresponded to 18 mo. Proportionate short stature with prominent nose and ears suggested the possibility of Floating Harbor syndrome (FHS) caused by SRCAP gene mutations [1]. Russell Silver syndrome and Rubinstein Taybi syndrome are other syndromes with primordial short stature and some facial similarity with FHS.

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