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KMID : 0356620100250020152
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Journal of Korean Society of Endocrinology
2010 Volume.25 No. 2 p.152 ~ p.156
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A Case Report of Hajdu-Cheney Syndrome
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Han Eun-Jin
Moon Jun-Il
An So-Yeon
Jung Yun-Jung
Kim ok-Hwa
Chung Yoon-Sok
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Abstract
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Hajdu-Cheney syndrome (HCS) is a rare skeletal dysplasia that is characterized by acroosteolysis of the distal phalanges, distinctive craniofacial and skull changes, dental abnormalities and generalized osteoporosis. The clinical and radiologic characteristics are variable and these characteristics progress with age. This syndrome shows autosomal dominant inheritance with sporadic cases. The genetic defects or molecular pathogenesis of HCS are still unknown. We experienced a case of Hajdu-Cheney syndrome in a 20-year-old man who had generalized osteoporosis with multiple non-traumatic spine compression fractures. He had acroosteolysis of the hands and feet, wormian bones in the skull, facial dysmorphism (mid-facial flattening, micrognathia and bushy eyebrows), a high arched palate, malocclusion and short dental alveolar processes. HCS was diagnosed based on the clinical and radiologic evidence. For the differential diagnosis, we excluded the other possible causes of the acroosteolysis and wormian bones, including perparathyroidism,
osteogenesis imperfecta, hypophosphatemia and mandibuloacral dysplasia. The specific treatment of HCS is unknown, but case reports with bisphosphonate treatment have been reported.
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KEYWORD
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Hajdu-Cheney syndrome, Skeletal dysplasia, Acroosteolysis
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