Surgical Treatment of Chondrodysplasia Punctata Tibial-Metacarpal Type Until Skeletal Maturity

Abstract

Case: An infant boy with chondrodysplasia punctata tibial-metacarpal type (CDP-TM) was followed up till skeletal maturity. The patient underwent surgeries for bilateral patellar dislocations at the age of 9 years of age, left leg length discrepancy at 12 years, and atlantoaxial subluxation at 14 years. At the final follow-up at 18 years, he had no complaints or limitation of his daily life activities.Conclusion: CDP-TM may require multiple orthopedic surgeries such as patellofemoral instability, limb length discrepancy, and upper cervical dysplasia until skeletal maturity, and should be followed in order to identify them early. Chondrodysplasia punctata (CDP) is characterized by epiphyseal stippling, and 8 subtypes as well as 10 genetic abnormalities associated with CDP have been reported 1 . Because CDP is typically a sign and not a diagnosis, the clinical features of each subtype vary (e.g., midface hypoplasia, resolution of stippling with bone maturation, and low stature are common while ichthyosis, cataract, and hearing loss are dependent on the subtype). CDP tibialmetacarpal type (CDP-TM) is a rare disease classified under the CDP group as per the latest nosology and classification of genetic skeletal disorders 1 . CDP-TM causes the shortening of long bones, resulting in the fibula ending up longer than the tibia, short metacarpal bones, and variable shortening of the phalanges. The genetic abnormality causing the disease has yet to be identified. Data on long-term follow-up of patients with CDP-TM remain scarce, except for one report of surgery in such a patient who underwent surgery because of patellar dislocation 2 . We describe a patient with CDP-TM followed up till skeletal maturity, who required surgeries for bilateral patellar dislocation, leg length discrepancy, and atlantoaxial subluxation because of the incidence of os odontoideum.This study was approved by the ethics committee of Shizuoka Children's Hospital (ID 6).The patient's parents were informed that data concerning this case would be submitted for publication, and they provided consent. Case Report Medical HistoryDisclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/B941).