What syndrome is this?

Abstract

A 4-year old boy, the only son of healthy, nonconsanguineous parents without a significant family history, was referred to our clinic. Pregnancy had been complicated by missed abortion and decrease in fetal movements, and he was born at term with prolonged labor, resulting in perinatal distress. At birth, his weight was 4 kg (75th centile), height 51 cm (50th centile), head circumference 35 cm (50th centile), and Apgar score was 5 at first minute and 8 at fifth minute; he had general hypotonia, prolonged icterus, and feeding difficulties. Laboratory and instrumental examinations (standard karyotype and FRAXA, nervous system imaging, metabolic and hormonal studies, TORCH, total body radiograph, ophthalmologic examination) performed successively, within the first year of life, gave no remarkable results. The psychomotor development of the patientwas delayed: hewas able towalkunsupported at about 15 months of age, and pronounced his first monosyllabes at 24 months. He was very susceptible to respiratory infections. On examination, he was 107 cm tall (50th centile), his weight 22 kg (90th centile), and OFC 53 cm (90th centile). He presented with an expressionless face, lowcut hairline, frontal bossing, arched and laterally sparse eyebrows, long palpebral fissures with lower palpebral eversion, epicanthus, telecanthus (abnormally increased distance between medial canthi), a short, flat nose with anteversion of the tip and short philtrum, large mouth with thick lips (lower lip was also everted), high-arched palate, thick tongue, teeth malocclusion and micrognatia, and large protuberant low-set ears with a thick helix (Fig. 1). Abnormalities were not restricted to the craniofacial area; they also involved the upper limbs (brachydactyly, prominence of fingertip pads, clinodactyly of fifth finger bilaterally, abnormal palmar creases) (Fig. 2) and lower limbs (genu valgum, shortness of great toes, cutaneous syndactyly of second and third toes of both feet). He also had unilateral right cryptorchidism.