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Hormones

, Volume 12, Issue 2, pp 309–311 | Cite as

Acrodysostosis associated with hypercalcemia

  • Mehmet Kirnap
  • Mustafa Calis
  • Cumali Gokce
  • Selim Kurtoglu
  • Mustafa Ozturk
  • Fahrettin Kelestimur
Case report

Abstract

An 18-year-old man was admitted to the clinic complaining of deterioration in the function of his hands and feet. The clinical examination revealed that his movements were clumsy and that he had disproportionally short limbs. In addition, he also had facial abnormalities of frontal bossing, hypertelorism, maxillary hypoplasia, broad low nasal bridge, short upturned nose with anteverted nostrils and triangular mouth. All extremities appeared short with stubby fingers and toes and with broad hands and wrinkling of the dorsal skin. Chromosomal analysis showed a normal (46, XY) karyotype. X-ray studies revealed broad, short metacarpals and phalanges with cone-shaped epiphyses and brachycdactyly and a diagnosis of peripheral dysostosis was confirmed by the characteristic radiographic appearance of the hands. Serum calcium and alkaline phosphatase levels were high, parathormone (PTH) was low, but 25 (OH) Vitamin D, albumin, and 24 hour urine calcium levels were in the normal range. Based on these findings, a diagnosis of acrodysostosis associated with hypercalcemia was made. To the best of our knowledge, this represents the first description of this syndrome.

Key words

Acrodysostosis Albright’s hereditary osteodystrophy Hypercalcemia 

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Copyright information

© Hellenic Endocrine Society 2013

Authors and Affiliations

  • Mehmet Kirnap
    • 1
  • Mustafa Calis
    • 1
  • Cumali Gokce
    • 2
  • Selim Kurtoglu
    • 3
  • Mustafa Ozturk
    • 4
  • Fahrettin Kelestimur
    • 5
  1. 1.Department of Physical Medicine and RehabilitationErciyes University Medical SchoolKayseriTurkey
  2. 2.Department of EndocrinologyMustafa Kemal University Medical SchoolHatayTurkey
  3. 3.Department of Pediatric EndocrinologyErciyes University Medical SchoolKayseriTurkey
  4. 4.Department of RadiologyErciyes University Medical SchoolKayseriTurkey
  5. 5.Department of EndocrinologyErciyes University Medical SchoolKayseriTurkey

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