Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata

Case Reports in Orthopedics
Yoh FujimotoSakae Tanaka

Abstract

Brachytelephalangic chondrodysplasia punctata (CDPX1) is characterized by brachytelephalangy and nasomaxillary hypoplasia, in addition to stippled epiphyses. Some reports have described infants with CDPX1 who exhibited cervical spinal stenosis. However, the natural course of cervical spinal lesions in this condition has not been elucidated. Here, we report a very rare adolescent case of CDPX1, which demonstrated progressive myelopathy caused by atlantoaxial subluxation and a subsequent retroodontoid pseudotumor, successfully treated with surgery. Our case highlights a new clinically important fact that upper cervical spinal lesions in CDPX1 can deteriorate even after childhood and thus need close monitoring.

References

Aug 29, 2006·European Journal of Pediatrics·Arnaud GarnierClarisse Baumann
Oct 3, 2007·Journal of Pediatric Orthopedics. Part B·Philippe ViolasHenri Bracq
Mar 19, 2008·American Journal of Medical Genetics. Part a·Michelle NinoNancy Braverman
Nov 4, 2008·Clinical Dysmorphology·Melita D IrvingChristine M Hall
Jan 26, 2012·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Timothy W Vogel, Arnold H Menezes
Aug 12, 2017·Journal of Neurosurgery. Pediatrics·Nobuhito MorotaGoichiro Tamura

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