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Clinical follow up of a girl with “mental retardation with pterygia, shortness and distinct facial appearance” (Haspeslagh syndrome)

✍ Scribed by C. T. R. M. Schrander-Stumpel; C. F. M. Pulles-Heintzberger; J. P. Fryns


Book ID
115091687
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
758 KB
Volume
47
Category
Article
ISSN
0009-9163

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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 wi