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Orthopedic surgical management of skeletal deformities in Cole-Carpenter syndrome: A case report of two siblings

Year: 2025

Type: article

Abstract: Cole-Carpenter syndrome is a rare genetic disorder under the spectrum of Carpenter syndrome, marked by craniofacial abnormalities, bone fragility, and progressive skeletal deformities. While its cranial and digital features are well documented, orthopedic involvement and surgical outcomes are seldom reported. We present two siblings with genetically confirmed Cole-Carpenter syndrome type 2, both with early-onset fractures, severe tibial deformities, and delayed bone healing. Both patients had mobilized without walking aids, but it was painful due to the deformity. There is no limitation in daily activity level with upper-limb deformities. Imaging revealed proximal ulnar pseudoarthrosis, bilateral valgus, and bowing of the tibiae, along with osteopenia. Each patient underwent staged bilateral Sofield osteotomies with intramedullary Fassier–Duval nail fixation. At the 3-year follow-up, both patients showed improved alignment, independent ambulation, and no surgical complications. Upper-limb deformities were present but managed non-operatively due to limited functional impact. These cases illustrate the orthopedic burden of Cole-Carpenter syndrome and support the use of telescopic intramedullary nails for deformity correction in fragile bone. Early surgical planning and long-term follow-up are key to improving outcomes in this rare condition.

Source: Journal of Musculoskeletal Surgery and Research

DOI: 10.25259/jmsr_418_2025

Authors: Thamer S. Alhussainan, Zainab M. Aleid, Salem W. Basamad, Nouf F. Alsadoun

Institution: King Faisal Specialist Hospital & Research Centre

Language: English

Topic: Congenital limb and hand anomalies

Subfield: Developmental Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4417311014