Autosomal dominant inheritance in Setleis syndrome.
Setleis syndrome is characterized by bitemporal skin depressions resembling forceps marks, abnormalities of the eyelashes, and "leonine" facial appearance. The cause is unknown, although autosomal recessive inheritance has been proposed. Recently, two families were reported in which one of the parents of a patient with Setleis syndrome showed mild manifestations, suggesting autosomal dominant inheritance. We describe a 9-month-old Japanese boy with typical Setleis syndrome. His father, who has normal intelligence, has bitemporal focal dermal dysplasia but a normal face. His paternal second cousin also has Setleis syndrome. This family shows autosomal dominant inheritance including father-to-son transmission of Setleis syndrome with variable expressivity and reduced penetrance. Careful examination of the relatives of patients with Setleis syndrome is recommended.
Masuno
M
M
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Imaizumi
K
K
Makita
Y
Y
Nakamura
M
M
Kuroki
Y
Y
D000328:Adult; D005140:Eyelashes / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007360:Intelligence; D008297:Male; D010375:Pedigree; D012016:Reference Values; D012868:Skin Abnormalities; D013577:Syndrome