Article
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years.
Journal of pediatric endocrinology & metabolism : JPEM - 26 Jul 2017
Arditi Jessica D, Thomaidis Loretta, Frysira Helen, Doulgeraki Artemis, Chrousos George P, Kanaka-Gantenbein Christina
Abstract excerpt
BACKGROUND: Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international...
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