Endocrinol Metab.  2010 Jun;25(2):152-156. 10.3803/EnM.2010.25.2.152.

A Case Report of Hajdu-Cheney Syndrome

• Han EJ
• Mun JI
• An SY
• Jung YJ
• Kim OH
• Chung YS

• KMID: 2169023
• DOI: http://doi.org/10.3803/EnM.2010.25.2.152

Abstract

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.

Keyword

Hajdu-Cheney syndrome; Skeletal dysplasia; Acroosteolysis

MeSH Terms

Acro-Osteolysis
Alveolar Process
Diagnosis, Differential
Foot
Fractures, Compression
Hajdu-Cheney Syndrome
Hand
Humans
Hyperparathyroidism
Hypophosphatemia
Malocclusion
Osteogenesis Imperfecta
Osteoporosis
Palate
Skull
Spine
Wills
Young Adult

Figure

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  Fig. 1 Clinical photograph of face*. Coarse face and hair, bushy eyebrow and micrognathia are observed. *This facial photograph is submitted with informed consent of the patient for academic purpose.

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  Fig. 2 Clinical photo of hands. Short and clubbed fingers due to acroosteolysis.

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  Fig. 3 Thoracolumbar spine lateral projection shows osteoporosis with biconcave vertebral bodies due to compression fractures.

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  Fig. 4 Phalangeal acroosteolysis of hands (A) and feet (B). The osteolysis is most marked in the middle of the distal phalanges, ranging from loss of part of the tuft to loss of almost entire distal phalanges. Note cone-shaped distal phalanges of the toes due to peripheral acrolyses.

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  Fig. 5 Persistence of coronal suture into adult life and wormian bones in the lambdoidal suture are seen.

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  Fig. 6 Multiple compression fractures of spine. 99mTc-MDP whole body bone scan revealed multiple compression fractures in T11 and L2-L5 spines (arrows) and focal uptakes in right 6th, 7th and 8th costochondral junctions.

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