BACKGROUND: Chondrodysplasia punctata (CDP) is a common manifestation of an etiologically heterogenous group of disorders. There is very little data regarding the development and management of spinal deformity in patients with CDP. The purpose of this study was to present a multicenter series of CDP, to describe the surgical outcomes of spinal deformities in CDP patients and to emphasize important considerations that may influence choice of surgical treatment of spinal deformity in this patient population. METHODS: The medical records and spinal radiographs of patients with the diagnosis of CDP followed in 2 centers between 1975 and 2011 were retrospectively reviewed. Epiphyseal stippling was present on radiographs in all patients who fulfilled the clinical criteria. RESULTS: Among the 17 patients who were diagnosed with CDP, 13 had spinal deformities. The mean age at diagnosis of spinal deformity was 14.6 months (range, 1 wk to 9 y). Males and females were close to equally represented (10 males and 7 females). Twelve patients (92%) required surgery to correct spinal deformity. Patients were followed for a median of 8.4 years (range, 2.8 to 19.5 y). The total number of surgical procedures performed was 17 averaging 1.5 per patient. Four patients required >1 procedure. Eighty percent of the patients who required >1 surgical procedure were females with probable diagnosis of X-linked dominant CDP. Revision surgery was indicated in 50% of the patients treated with combined anterior and posterior fusion and 20% of the patients treated with posterior fusion alone. CONCLUSIONS: Spinal deformity in CPD patients may range from significant kyphoscoliosis to minimal deformity that does not require any treatment. For those patients in whom spine surgery was indicated, a high incidence of revision surgery and curve progression after fusion was recorded. Female patients with probable diagnosis of X-linked dominant CDP were more likely to require a second surgical procedure. Isolated posterior fusion showed less favorable results compared with combined anteroposterior fusion in terms of revision surgery.
- Conradi-Hunermann-Happle syndrome
- chondrodysplasia punctata
- epiphyseal stippling
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Orthopedics and Sports Medicine