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Young-Simpson syndrome: Further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation

✍ Scribed by Masuno, Mitsuo; Imaizumi, Kiyoshi; Okada, Toshihisa; Adachi, Masanori; Nishimura, Gen; Ishii, Takuma; Tachibana, Katsuhiko; Kuroki, Yoshikazu

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 20 KB
Volume: 84
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990507)84:1<8::aid-ajmg2>3.0.co;2-2

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✦ Synopsis

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.

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