SPR unknown #39 -- FINAL

David Saldanha

University of Illinois at Chicago

dsalda1@uic.edu

Dr. Ben Ami

Children's Memorial Hospital

Keywords

1647 hajdu cheney spr unknown 39


Publication Date: 2010-09-15

History

16 year-old with delayed-onset puberty and unexplained osteoporosis

Findings

Generalized osteopenia

Skull: Multiple wormian bones, delayed ossification of the cranial sutures, mild thickening of calvarium, hypoplastic paranasal sinuses

Spine: Endplate depressions, scoliosis

Chest: Narrow transverse diameter

Long bones: Erlenmeyer flask deformity of the long bones, bilateral radial and tibial bowing

Hands/feet: Hypoplasia, resorption, and fragmentation of the distal phalanges and distal tufts

Diagnosis

Hajdu Cheney Syndrome

DDx

Please see discussion for more specific discussion on differential diagnosis.

1. Causes of multiple wormian bones

2. Differential of acro-osteolysis of the phalangeal tuft

Discussion

Hajdu Cheney Sydnrome is a rare disease involving defect in collagen and bone formation with both autosomal dominant inheritance and sporadic cases. The disease was first described in 1948. The disorder is primarily characterized by acroosteolysis of the distal phalanges, specific craniofacial and skull dysmorphia, short stature, and dental abnormalities. This syndrome has been described by other terms, including, acroosteolysis syndrome, arthro-dento-osteodysplasia, cranio-skeletal dysplasia with acroosteolysis amongst other names.

The findings are progressive, with the full phenotypic abnormalities developing over the course of childhood rather then an immediate presentation. The clinical and radiologic abnormalities develop at different rates, leading to the difficulty in diagnosis. Acro-osteolysis presents late in childhood, and the principle differential includes pyknodysostosis and progeria. Other causes of acro-osteolysis and wormian bones can be considered when the full spectrum of clinical abnormalities do not present early on.

Specific findings include acro-osteolysis of the distal phalanges, widened cranial sutures, and wormian bones. With acro-steolysis the terminal phalanges are small and triangular with transverse lytic defects across the shafts of the phalanges.

Additional features include frontal bossing, micrognathia, mid-facial flattening, platybasia, mid- facial flattening, loss of teeth, coarse hair, low set ear, and short stature. Other features include elongated pituitary fossa, thickened skull vault, prominent occiput, development of basilar invagination. tall vertebral bodies, narrowed disc spaces, vertebral collapse, and absence of frontal sinuses. Patients can have mesomelic limbs and discrepancy in the length of the paired long bones, resulting in valgus at the knees and dislocation of the radial heads. Fibulae are long and bowed and project proximally. There is joint laxity.

Complications include neurologic compromise from basilar invagination and ventilator compromise from chest wall deformity.

References

  1. O'Reilly, MAR; Shaw, DG. Hajdu-Cheney Syndrome. Annals of Rheumatic Diseases, 1994;53: 276-279.
  2. Satishchandra H, Madhu SD, Prasad KR. Images: Hajdu-Cheney syndrome. Indian J Radiol Imaging [serial online] 2008 [cited 2010 Sep 14];18:138-40. Available from: http://www.ijri.org/text.asp?2008/18/2/138/40298
  3. Brennan, AM; Pauli RM; Hajdu-Cheney Sydrome: Evolution of Phenotype and Clinical Problems. American Journal of Medical Genetics, 2001; 100:292-310.

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