Follow-up study in a patient with Setleis syndrome.
We report on an 8-year-old Japanese boy with Setleis syndrome. The patient had a very characteristic "coarse" facial appearance, bitemporal "forceps marks," skin aplasia, sparse hair, and skin hypo- and hyperpigmentation. He also had previously undescribed manifestations, including an aberrant hair pattern of the forehead, linear skin lesions on the forehead, short palpebral fissures, a small skin tag on the right cheek, cone-shaped teeth, and pectus carinatum. Dermatoglyphic studies documented aberrant distal palmar creases (simian crease variant), 8 arches, and reduced total finger ridge count. When serial photographs were reviewed, his facial characteristics became more obvious with increasing age.
Tsukahara
M
M
Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
Okabe
T
T
Ohtsuka
M
M
Furukawa
S
S
D002648:Child; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities*; D005500:Follow-Up Studies; D006197:Hair; D006801:Humans; D008297:Male; D013577:Syndrome