PMC3065314_01
The appearance of the face, the broad, short thumbs and large toes are characteristic features of the Rubinstein-Taybi syndrome. The second twin had angulation of the distal interphalangeal joints of the thumbs. (L1-R1 and L2-R2 designate the left and right hands of first and second twins, respectively)
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Anthropometric measurements of the second twin yielded a birth weight of 1780g (10-25th centile), length of 42cm (10-25th centile), and head circumference of 28cm (<10th centile).  The twins had an unusual dysmorphic facialappearance with microcephaly, prominent forehead, down-slanting palpebral  fissures, epicanthal folds, hyperteleorism, beaked nose, broad  nasal  bridge, hypoplastic  philtrum,  thin upper lip, swollen-thick lower lip and micrognathia, and a facial expression, which resembled an excruciating smile (Figure 1).
Thyroid hypoplasia without ectopic tissue was detected by technetium 99m pertechnetate thyroid scintigraphy in both twins
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TSH 9.02 mIU/L (normal: 4.3+-1.6 mU/L), TG 204.87 ng/mL (normal: up to 250 ng/mL), and UIE 40 mg/dL. Thyroid volumes were 0.36 mL and 0.31 mL (0.60+-0.07 mL), respectively (Table 1). TH was confirmed by technetium 99 m pertechnetate thyroid scans, and no ectopic tissue was observed in either twin (Figure 2).