title: A Japanese boy with Young-Simpson syndrome.
abstract: In 1987 Young and Simpson reported a child with hypothyroidism, a congenital heart disease, severe mental retardation and striking facial dysmorphism, including microcephaly, blepharophimosis, bulbous nose, thin lip, low-set ears and micrognathia. This study presents an 8-month-old boy with virtually identical features to those in Young and Simpson's original case. The patient is a sporadic case and his parents are unrelated and phenotypically normal, hence the family data corresponds to any mode of inheritance. This is the first male case reported in the world and the first in Orientals.
authors.affiliation: Department of Neonatology, Tokyo Metropolitan Children's Hospital, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Nakamura
authors.forename: S
authors.initials: S
authors.lastname: Noma
mesh_terms: D000015:Abnormalities, Multiple; D016569:Blepharophimosis; D003409:Congenital Hypothyroidism; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D013577:Syndrome