Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.
Young-Simpson syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. We describe the cases of a 5-year-old boy and a 7-year-old girl with a similar constellation of symptoms and compared them with previously reported patients.
Masuno
M
M
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Imaizumi
K
K
Okada
T
T
Adachi
M
M
Nishimura
G
G
Ishii
T
T
Tachibana
K
K
Kuroki
Y
Y
D001921:Brain / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D003409:Congenital Hypothyroidism; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000151:congenital; D006331:Heart Diseases / Q000151:congenital*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome