Resumo

COLMENARES ROLDAN, LINA MARÍA  e  DE LA CALLE, NATALIA. Hajdu Cheney syndrome, an infrequent pathology. CES Med. [online]. 2013, vol.27, n.1, pp.101-106. ISSN 0120-8705.

Hajdu Cheney syndrome is a rare autosomal dominant disorder, which is accompanied by acroosteolysis and multiple clinical and radiological manifestations, predominantly in adolescence and early adulthood. Until now only 60 cases has been reported in the literature, this syndrome has an infrecuent presentation; recently the syndrome has been associated with specific genetic defects in Notch 2 gene related to osteoclastogenesis. Due to this is rare disease, we highlights the importance of presenting the first case reported in Colombia of a 20 years old patient with acroosteolysis, short stature, plantar ulcer, premature loss of teeth, and characteristic facies which has been diagnosed with Hajdu Cheney syndrome and is currently receiving treatment from a multidisciplinary team.

Palavras-chave : Hajdu-Cheney syndrome; Acro-Osteolysis; Plantar ulcer; Bone; Resorption.

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