Bilge DEMİREL, Didem Arman, Hatip AYDIN, SEVİLAY TOPCUOĞLU, Tuğba GÜRSOY, Güner KARATEKİN, Fahri OVALI

Dört İskelet Displazisi Olgusu Skeletal

Giriş: Tanatoforik displazi (TD) ve Osteogenezis Imperfekta (OI) kemik deformiteleri ve solunum yetmezliği nedeniyle hayatın ilk yılında ölüm ile sonlanan iskelet displazileridir. Olgular: İlk iki vaka prenatal takiplerinde TDden şüphelenilen ve solunum sıkıntısı nedeniyle servisimize yatırılan bebeklerdi. Birinci olgu term appropriate for gestational age (AGA), 2. olgu ise preterm AGA idi. Göğüs kafesi, üst ve alt ekstremitelerinde ileri derecede kısalık mevcuttu. Genetik konsültasyonu sonucunda olgular TD tanısı aldı. Üçüncü ve dördüncü vakalar ise takipsiz gebelikler sonucunda doğmuş ve solunum sıkıntısı nedeniyle servisimize yatırılmıştı. Her iki bebek de term small for gestational age (SGA) idi ve başın gövdeye oranı artmıştı. Palpasyonla geniş fontanelleri mevcuttu. Kalvariumlarında irili ufaklı çok sayıda kıkırdak parçaları palpe ediliyordu. Genetik konsultasyonu ile OI tip 2 tanısı alan olgular postnatal 1. haftada solunum yetmezliği nedeni ile kaybedildiler. Sonuç: İskelet displazisi tiplerinin tanınması uygun genetik danışmanlık vermek için gereklidir. Postnatal fizik muayene ve detaylı radyolojik inceleme ayırıcı tanıda yardımcıdır.

Dysplasia: Report of Four Cases

Introduction: Thanatophoric dysplasia (TD) and osteogenesis imperfecta (OI) are characterized with bone deformities. Cardiorespiratory failure leads to death mostly in the neonatal period. We presented two infants with TD and two infants with OI type II. Cases: Our first and second cases, with an antenatal diagnosis of skeletal dysplasia, were admitted to neonatal intensive care unit due to respiratory distress. First infant was born to a 30 years old mother at term with a birth wight of 2800 grams. Second case was born to a 24 years old mother at the 33th gestational week with a birth weight of 1900 grams. In physical examination both had a coarse facies, large fontanelle, low nasal bridge, narrow thoracic cage and their extremities were extremely short. Genetic consultation yielded a diagnosis of TD. Infants succumbed to respiratory failure in the 4th and 8th days of life respectively. Third and fourth cases lacked antenatal visits. They were hospitalized due to severe respiratory distress. Both infants were term SGA. They had large heads compared to trunk. Fontanelles were large and multiple fractures were palpable in the skull. Genetic consultation yielded a diagnosis of OI type II. Infants succumbed to respiratory failure in the 4th and 3th days of life respectively. Conclusion: Identification of skeletal dysplasia is essential for genetic counselling. Postnatal physical examination and detailed radiologic investigation may be helpful for differential diagnosis.

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