Hajdu-Cheney Syndrome

Hajdu-Cheney syndrome, a multicentric idiopathic osteolysis, belongs to the group of osteochondrodysplasias. Although best known to radiology residents as a cause of band-like acroosteolysis, patients with Hajdu-Cheney syndrome can have multiple skeletal and extraskeletal abnormalities on imaging:

• Mineralization: Generalized osteopenia, especially in the vertebrae, leading to short stature. Fractures can also be seen (e.g., note the fracture of the small finger metacarpal head).
• Joints: Hypermobile joints, dislocation and hypoplasia of the radial head.
• Skull: Dolichocephaly, bathrocephaly (protuberance of the squamosal part of the occipital bone), thickened cranial vault, persistent/open sutures, wormian bones, enlarged/J-shaped sella, platybasia, and basilar invagination.
• Paranasal sinuses: Absent or hypoplastic frontal sinuses
• Facial bones: Micrognathia, obtuse mandibular angle, high arched and narrow palate, cleft lip/palate and uvula.
• Teeth: Delayed development, malalignment, and premature loss of teeth, resorption of alveolar bone.
• Spine: Tall vertebral bodies, narrowing of disk spaces, biconcave compression deformities due to osteopenia, spondylolisthesis, scoliosis, kyphosis.
• Pelvis: Coxa valga, subluxation/dislocation of the femoral heads
• Long bones: Fractures, elongated gracile and wavy (serpentine) fibulae, mesomelic shortening of the arms
• Knees: Genu valgum
• Hands and feet: Clubby and stubby fingers and toes, short and curved nails, and band-like acroosteolysis that may spare some phalanges, club foot deformity.
• Central nervous system: Hydrocephalus, syringohydromyelia.
• Cardiac: Ventricular and atrial septal defects, mitral regurgitation, patent ductus arteriosus, and calcified ductus aneurysm.
• Genitourinary: Polycystic kidneys, chronic renal failure, renal hypoplasia, vesicoureteral reflux, cryptorchidism, Müllerian duct duplications.
• Gastrointestinal: Umbilical and inguinal hernias, malrotation.
• Pulmonary: Recurrent upper respiratory tract infections.

Special thanks to Drs. Orr Barak and Elizabeth Barak for the case.

References

• Currarino G. Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease. Pediatr Radiol. 2009 Jan,39(1):47-52.
• Diren HB, Kovanlikaya I, Süller A, Dicle O. The Hajdu-Cheney syndrome: a case report and review of the literature. Pediatr Radiol. 1990,20(7):568-9.