PMC5871659_01
Phenotype of the patient. (A) The patient exhibited a short neck, brachycephaly, acanthosis nigricans on the nape of the neck, central abdominal obesity and gynecomastia. (B) Facial features demonstrated synophrys, facial asymmetry, downward slanting palpebral fissures, a broad nasal bridge and a thin upper lip. (C) Hands of the proband; note the short and thick fingers. The patient's parents provided written informed consent for the publication of his images.
fgene-09-00098-g0001.jpg
PMC5871659_01_fgene-09-00098-g0001.jpg
F1
On physical exam during a follow-up visit at age 10, the following findings were observed: weight = 44.4 kg (>87th perc.; z-score 1.16), height = 1.22 m (<1st perc.; z-score -3.0), acanthosis nigricans on the nape of the neck, brachycephaly, flat occiput, synophrys, small antihelix, facial asymmetry, distended abdomen, and a redundant prepuce (Figure 1).