Foot Deformities in Hajdu-Cheney Syndrome

NewsBot · Dec 16, 2017

Members do not see these Ads. Sign Up.
Foot Deformities in Hajdu-Cheney Syndrome: A Rare Case Report and Review of the Literature.
Shah AB et al
J Orthop Case Rep. 2017 Sep-Oct;7(5):11-15. doi: 10.13107/jocr.2250-0685.876.

INTRODUCTION:
Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet. Very few cases have been earlier reported in the literature.

CASE REPORT:
We report a case of a 50-year-old female with bilateral foot deformities as a manifestation of the rare genetic disorder HCS. Surgical management of the left foot consisted of Morton's neuroma excision and Weil osteotomy with proximal interphalangeal joint resection and Kirschner wire fixation of the second and third metatarsophalangeal (MTP) joints. Recurrent subluxation of the left second MTP joint was observed at 5-week follow-up. The right foot was treated similarly 7weeks after the initial operation. The post-operative course of the right foot was complicated by bone resorption and nonunion of the second and third metatarsal Weil osteotomies.

CONCLUSION:
Management of complex foot deformities associated with HCS can be challenging and have not previously been described in the literature. Underlying bone and connective tissue abnormalities intrinsic to the syndrome may increase the risk of recurrence after surgical correction. Consideration should be given to such post-operative complications when treating foot deformities in a patient with HCS.
Click to expand...

Admin2 · Dec 16, 2017

Hajdu–Cheney syndrome

Medical condition

Hajdu–Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome,^[1] is an extremely rare autosomal dominant congenital disorder^[2]^[3] of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other possible symptoms. Mutations in the NOTCH2 gene, identified in 2011, cause HCS. HCS is so rare that only about 50 cases have been reported worldwide since the discovery of the syndrome in 1948^[4]

^ Online Mendelian Inheritance in Man (OMIM): 102500

^ Crifasi PA, Patterson MC, Bonde D, Michels VV (June 1997). "Severe Hajdu-Cheney syndrome with upper airway obstruction". American Journal of Medical Genetics. 70 (3): 261–6. doi:10.1002/(SICI)1096-8628(19970613)70:3<261::AID-AJMG9>3.0.CO;2-Z. PMID 9188663.

^ Brennan AM, Pauli RM (May 2001). "Hajdu--Cheney syndrome: evolution of phenotype and clinical problems". American Journal of Medical Genetics. 100 (4): 292–310. doi:10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4. PMID 11343321.

^ Cortés-Martín J, Díaz-Rodríguez L, Piqueras-Sola B, Rodríguez-Blanque R, Bermejo-Fernández A, Sánchez-García JC (August 2020). "Hajdu-Cheney Syndrome: A Systematic Review of the Literature". International Journal of Environmental Research and Public Health. 17 (17): 6174. doi:10.3390/ijerph17176174. PMC 7504254. PMID 32854429.

Read More

NewsBot The Admin that posts the news.

Admin2 Administrator Staff Member

Hajdu–Cheney syndrome

Foot deformities in MECP2 disorders

Anthropometric and Biomechanical Variables Causing Foot Deformities

3D Models Help in Correcting Foot Alignment in Hallux Valgus Deformities

Conjoined twins presenting with foot deformities

Foot orthosis with comprehensive method for correcting deformities of the transverse arch

Foot deformities in Renaissance paintings

Foot deformities in epidermolysis bullosa

Share This Page