PMC4265458_01
Phenotypic characteristics of the patient at 14 years of age. (a) Asymmetric long face, with retrognathia and short philtrum, (b) long and prominent nose, large or prominent ears, (c) hands with long fingers, (d) bilateral sandal gap of the first toes with large halluces, (e) postural kyphosis with sloping shoulders.
13039_2014_87_Fig1_HTML.jpg
PMC4265458_01_13039_2014_87_Fig1_HTML.jpg
Fig1
Craniofacial findings included an asymmetric long face, with retrognathia, short philtrum (Figure 1a), high palate with misaligned teeth, dysfunction of temporomandibular articulation, long prominent nose and prominent ears (Figure 1b). The hands have long fingers (Figure 1c), the feet display bilateral sandal gap of the first toes with large halluces (Figure 1d). Although in orthopedic examination he didn't reveal any remarkable alterations, he has a postural kyphosis with sloping shoulders (Figure 1e) and asymmetric position of scapulas.