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
Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome
β Scribed by Denise Horn; Gudrun Schottmann; Peter Meinecke
- Book ID
- 116433244
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 477 KB
- Volume
- 53
- Category
- Article
- ISSN
- 1769-7212
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