E-ISSN 2757-8062
Volume: 53 Issue: 2 Year: 2022

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Skeletal Dysplasia: Report of Four Cases [Zeynep Kamil Med J]
Zeynep Kamil Med J. 2015; 46(1): 32-35

Skeletal Dysplasia: Report of Four Cases

Bilge Demirel1, Didem Arman1, Hatip Aydın2, Sevilay Topçuoğlu1, Tuğba Gürsoy1, Güner Karatekin1, Fahri Ovalı1
1Zeynep Kamil Gynecology and Child Diseases Educ. and Res. Hospital Neonatal Intensive Care Unit, Istanbul, Turkey
2Zeynep Kamil Gynecology and Child Diseases Educ. and Res. Hospital, Genetic Diagnosis Center, Istanbul, Turkey

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.

Keywords: Antenatal diagnosis, Osteogenesis imperfecta, Skeletal dysplasia, Thanatophoric dysplasia.

Bilge Demirel, Didem Arman, Hatip Aydın, Sevilay Topçuoğlu, Tuğba Gürsoy, Güner Karatekin, Fahri Ovalı. Skeletal Dysplasia: Report of Four Cases. Zeynep Kamil Med J. 2015; 46(1): 32-35

Corresponding Author: Didem Arman, Türkiye
Manuscript Language: English
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