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A Japanese boy with Young‐Simpson syndrome
Author(s) -
NAKAMURA TOSHIHIKO,
NOMA SEIJI
Publication year - 1997
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1997.tb03621.x
Subject(s) - blepharophimosis , medicine , microcephaly , facial dysmorphism , pediatrics , heart disease , family history , surgery , genetics , ptosis , biology , gene , phenotype
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.