Endocrinol Metab > Volume 25(2); 2010 > Article
Endocrinology and Metabolism 2010;25(2):152-156.
DOI: https://doi.org/10.3803/EnM.2010.25.2.152    Published online June 1, 2010.
A Case Report of Hajdu-Cheney Syndrome.
Eun Jin Han, Jun Il Mun, So Yeon An, Yun Jung Jung, Ok Hwa Kim, Yoon Sok Chung
1Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea. yschung@ajou.ac.kr
2Department of Radiology, Ajou University School of Medicine, Suwon, Korea.
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 hyperparathyroidism, osteogenesis imperfecta, hypophosphatemia and mandibuloacral dysplasia. The specific treatment of HCS is unknown, but case reports with bisphosphonate treatment have been reported.
Key Words: Hajdu-Cheney syndrome, Skeletal dysplasia, Acroosteolysis

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