title: Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.
abstract: 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.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Masuno
authors.forename: K
authors.initials: K
authors.lastname: Imaizumi
authors.forename: T
authors.initials: T
authors.lastname: Okada
authors.forename: M
authors.initials: M
authors.lastname: Adachi
authors.forename: G
authors.initials: G
authors.lastname: Nishimura
authors.forename: T
authors.initials: T
authors.lastname: Ishii
authors.forename: K
authors.initials: K
authors.lastname: Tachibana
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroki
mesh_terms: 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