Figure 1

Representative photographs of the patient at 3 days of age (a-c) and 2 months of age (d-e), respectively. (a-b) The main facial features of the 3-day-old female newborn were narrow palpebral fissures, microretrognathia, hypertelorism with slight upslanting of her palpebral fissures, low-set, dysplastic ears with folded upper helices, a round face and a small nose with an almost absent nasal bridge. (c) The external genitalia were dysplastic. A sandal gap was present between the first and second toe. (d) The thumbs were hypoplastic and proximally placed. (e) The second and fifth fingers were outstretched and deviated towards the middle fingers; a clinodactyly of the distal phalanges could be observed.