Aarskog-Scott syndrome: One case report / 中华内分泌代谢杂志

ABSTRACT

Aarskog-Scott syndrome is an orphan disease, the typical manifestations include special facial feature, short stature, genital anomalies and skeletal dysplasia. We reported a male patient, three years six months old, admitted because of slow growth in height for 3 years. His stature was 90 cm(<P3, -3 SD). He presented special facial features, hyperextensible joints, brachydactyly, a shawl scrotum, and left cryptorchidism. He was found to have a genomic deletion (1.1 Mb) involving exons 9 to 12 in the FGD1 gene inherited by his mother. The patient met the clinical diagnostic criteria of the Aarskog-Scott syndrome. He was given growth hormone treatment from 5 years old, found 17 cm growth within 18 months. There was no adverse event of growth hormone therapy. This reminds us when a short patient showing a facial-digital-genital triad signs, Aarskog-Scott syndrome should be considered.