PMC5224771_01
PMC5224771_02
Patient 1. General appearance just after birth (A), facies (B), overlapping fingers (C), tumor in the sacrococcygeal region (D), and bilateral hydronephrosis (E). Color figure can be viewed in the online issue, which is available at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1552-4833.
CCR3-5-5-g001.jpg
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ccr3738-fig-0001
Further examinations revealed atrophy of bilateral optic nerves, bilateral sensorineural deafness, broad ribs, and bilateral hydronephrosis (Fig. 1).
PMC5224771_03
Patient 2. Ultrasonography at 30 weeks of gestation (A-C) and postnatal images (D-F). Facial appearance (A, D), overlapping toes (B, E), and bilateral hydronephrosis (C, F). Color figure can be viewed in the online issue, which is available at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1552-4833.
CCR3-5-5-g002.jpg
PMC5224771_03_CCR3-5-5-g002.jpg
ccr3738-fig-0002
Excess amniotic fluid, hydrocephalus, bilateral hydronephrosis, overlapping fingers and toes, high prominent forehead, hypertelorism, and depressed nasal root were observed in the fetus on ultrasonography (Fig. 2A-C). The patient showed a characteristic facial appearance with high prominent forehead, hypertelorism, upturned nostrils, midface hypoplasia, depressed nasal root, and micrognathia (Fig. 2D). She also had a large fontanel, malformed auricles, low-set ears, and overlapping fingers and toes (Fig. 2E). Further examinations revealed mild hydrocephalus, hydronephrosis (Fig. 2F), normal heart structure, and normal external genitalia.