TLDR A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
The document is a case study of a 15-year-old girl diagnosed with Trichorhinophalangeal Syndrome Type 1 (TRPS1), a rare genetic disorder with around 200 reported cases worldwide. The patient also had a Non-ossifying Fibroma (NOF) in her left femur, making her the second reported case with this condition. The diagnosis was delayed due to the varied expressions of the syndrome and mildness of symptoms. The study suggests that TRPS1 may be more common than reported. Management of TRPS1 is primarily supportive, involving a multidisciplinary team and treatments like analgesics for joint pain, hair care, orthopedic surgery, and physiotherapy. Growth hormone therapy might be considered for associated growth retardation. The study emphasizes the importance of detailed history, clinical examination, and genetic testing for diagnosing TRPS1, and calls for further research on the association of the TRPS gene with NOF bone lesions.
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