Campomelic dysplasia: A long surviving patient with sex reversal

Campomelic Displazi cücelik, pretibial bölgede gamzeler, femur ve tibiada bükülmeleri de içeren bir grup kıkırdak ve kemik anomalisi ve eşlik eden iskelet sistemi dışı bulgularla karakterize nadir görülen bir bozukluktur. Bildirilen az sayıda vaka dışındaki hastalar genellikle solunum yetmezliğine bağlı olarak ilk on ayda hayatlarım yitirmektedirler. Bizim vakamız bildiğimiz kadarıyla Türkiye'den bildirilen ilk XY kdryotipli dişi campomelik displazi vakası olup bu vakanın bulgularıyla birlikte literatür bilgisi de gözden geçirilmiştir. Ayraca vakanın 4 yaşına kadar yaşamış olması da diğer bir özelliğidir..

Kampomelik displazi: Uzun ömürlü XY karyotipli dişi bir olgu

Campomelic dysplasia is a rare disorder, characterised by rhizomelic dwarfism, and numerous cartilage and osseous anomalies including bowed femora and tibiae with dimples on the pretibial regions, and associated extraskeletal findings. Except for a small number of cases, patients are lost within the first ten months, mainly due to respiratory distress. Here we present the first campomelic dysplasia case with sex reversal reported from Turkey, together with a review of the literature. The relatively long survival up to the age of 4 is another distinctive property of the case.

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