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  • Title: Hypogonadotropic hypogonadism associated with cleidocranial dysostosis.
    Author: Vakili R, Jalali F.
    Journal: J Pediatr Endocrinol Metab; 2005 Sep; 18(9):917-9. PubMed ID: 16279370.
    Abstract:
    BACKGROUND: Cleidocranial dysostosis (CCD) is a rare autosomal dominant disease with high penetrance and extremely variable expression. Some of the clinical manifestations include large, broad and short cranium with frontal and parietal bossing and a supraglabellar depression, facial part of the cranium relatively small with hypertelorism, absent or poorly defined superior and inferior clavicular depressions. PATIENT REPORT: A 17 year-old girl with CCD was referred to the pediatric endocrinology and metabolism clinic because she failed to reach any signs of puberty.
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