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.
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Jones KL, 1992 Acrodysostosis. In: Jones KL (ed) Lippincott Williams & Wilkins Press, Philadelphia; pp, 463–464.
Robinow M, Pfeiffer RA, Gorlin RJ, et al, 1971 Acrodysostosis: A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child 121: 195–203.
Butler MG, Rames LJ, Wadlington WB, 1988 Acrodysostosis: Report of a 13-year old boy with review of literature and metacarpophalangieal pattern profile analysis. Am J Med Genet 30: 971–980.
Hamanishi C, Nagata Y, Nagao Y, Sohen S, Tanaka S, 1993 Acrodysostosis associated with spinal canal stenosis. Spine 18: 1922–1925.
Hernandez RM, Miranda A, Alfaro SK, 1991 Acrodysostosis in two generations: an autosomal dominant syndrome. Clin Genet 39: 376–382.
Wilson LC, Oude Luttikhuis MEM, Baraitser M, Kingston HM, Trembath RC, 1997 Normal erythrocyte membrane Gsα bioactivity in two unrelated patients with acrodysostosis. J Med Genet 34: 133–136.
Graham JM, Krakow D, Smith AK, Lachman RS, 2001 Radiographic findings and Gs-alpha bioactivity stadies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. Pediatr Radiol 31: 2–9.
Halal F, Dop CV, Lord J, 1985 Differential diagnosis in young women with oligomenorrhea and the pseudopseuduhypoparathyroidism variant of Albright’s Hereditary Osteodystrophy. Am J Med Genet 21: 551–568.
Bringhurst FR, Demay MB, Kronenberg HM, 1998 Hormones and disorders of mineral metabolism. In: Wilson TD, Foster DW, Kronenberg HM, Larsen PR, (eds.) Williams Textbook of Endocrinology. WB Saunders, Philadelphia; pp, 1342–1345.
Viljoen D, Beighton B, 1991 Brief clinical report epiphyseal stippling in acrodysostosis. Am J Genet 38: 43–45.
Macnicol MF, Makris D, 1988 Acrodysostosis and protrusio acetabuli. J Bone Joint Surg 70-B: 38–39.
Abrahamov A, Elstein D, Zimran A, 2000 Type IIIc Gaucher disease and acrodysostosis. Isr Med Assoc J 2: 182.
Gupte GL, Kher AS, Kanade SP, Bharucha BA, Sagade SN, 1994 Acrodysostosis with 5 alpha reductase deficiency: an unusual association. Indian J Pediatr 61: 287–290.
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Kirnap, M., Calis, M., Gokce, C. et al. Acrodysostosis associated with hypercalcemia. Hormones 12, 309–311 (2013). https://doi.org/10.14310/horm.2002.1416
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DOI: https://doi.org/10.14310/horm.2002.1416