Cousin Sendromu; Sıradışı Genetik Hastalık ve Pelviskapular Displazi ve Kraniofasyal Dismorfizm: Bir Vaka Sunumu ve Literatürün İncelenmesi

Öz

Cousin Sendromu; pelviskapular displazi olarak da adlandırılan, kraniyofasiyal dismorfizm ve çeşitli kas-iskelet anomalileri ile karakterize, TBX15 gen mutasyonunun neden olduğu genetik bir hastalıktır. Cousin Sendromu literatürde ilk olarak Cousin ve ark. 1982'de iki Kuzey Afrikalı kardeşte. Şimdiye kadar literatürde TBX15'te otozomal resesif mutasyonları olan sadece üç birey bildirilmiştir. Olgumuzda kraniyofasiyal dismorfizm, boy ve ekstremite kısalığı, skolyoz, humeroradial sinostozun eşlik ettiği pelvik ve skapular hipoplazisi olan Cousin sendromlu 50 yaşında kadın hasta ve rehabilitasyon sonuçları sunulmaktadır. Dünyada çok nadir görülen bu sendromlu hastanın klinik özelliklerini anlatarakliteratüre katkıda bulunmak istedik. Aynı zamanda genetik iskelet displazisi nedeniyle çok çeşitli kas- iskelet sistemi deformiteleri ve günlük yaşam aktivitelerinde kısıtlılığı olan bu hastada rehabilitasyonun önemini vurguladık.

Anahtar Kelimeler

• Pelviskapular displazi
• kraniyofasiyal dismorfizm
• kas-iskelet anomalileri
• TBX15 geni

COUSIN SYNDROME; UNUSUAL GENETIC DISEASE PELVISCAPULAR DYSPLASIA AND CRANIOFACIAL DYSMORPHISM: A CASE REPORT AND REVIEW THE LITERATURE

Öz

Cousin Syndrome; also called pelviscapular dysplasia, is a genetic disease caused by TBX15 gene mutation, which is characterized by craniofacial dysmorphism and various musculoskeletal anomalies. Cousin Syndrome was first described in the literature by Cousin et al. in 1982 in two North African siblings. So far only three unrelated individuals have been reported in the literature with otozomal recessive mutations in TBX15. In our case, a 50-year-old female patient with Cousin syndrome who had pelvic and scapular hypoplasia accompanied by craniofacial dysmorphism, short stature and extremity, scoliosis, humeroradial synostosis, and rehabilitation results are presented. We wanted to contribute to the literature by describing the clinical features of a patient with Cousin Syndrome, which is very rare in the world. At the same time, we wanted to emphasize the importance of rehabilitation in this patient who has a wide range of musculoskeletal deformities and limitation in daily living activities due to a genetic skeletal dysplasia.

Anahtar Kelimeler

• Pelviscapular dysplasia
• craniofacial dysmorphism
• musculoskeletal anomalies
• TBX15 gene

Kaynakça

1. Cousin J, Walbaum R, Cegarra P, Huguet J, Louis J, Pauli A et al. Dysplasie pelvi-scapulaire familiale avec anomalies épiphysaires, nanisme et dysmorphies: un nouveau syndrome? [Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)]. Arch Fr Pediatr.1982;39(3):173-5.
2. Dikoglu E, Simsek-Kiper PO, Utine GE, Campos-Xavier B, Boduroglu K, Bonafé L et al. Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. Am J Med Genet A. 2013;161A(12):3161-5.
3. Lausch E, Hermanns P, Farin HF, et al. TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet. 2008;83(5):649-55.
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