İskelet Displazili İki Yenidoğan: Olgu Sunumu Two Cases with Skeletal Dysplasia: A Case Report ZKTB

Introduction: Skeletal dysplasia occurs due to abnormalities in growth and development of bone. There are over 450 distinct types of skeletal dysplasias. Case: Fetal sonography is used for prenatal diagnosis and molecular diagnosis is used for classification. First patient was a 39 week-old boy. He had cleft palate and intrauterine growth retardation. Hypotonia, club foot, cleft palate, micrognathia and laryngomalacia, narrow thorax, underdeveloped scapula and dislocated ribs were determined in the postnatal period and the patient had 11th ribs bilaterally. The patient was considered to be a case of campomelic dysplasia (CMD). The patient requiring supportive ventilation dead of respiratory failure on the 21th Day. Second patient was a 39 week-old girl. Skeletal radiographs showed that she had shortness of the long bones and narrow thorax in the prenatal period. The patient was considered to be a case of achondrogenesis but the result of analysis of the FGFR3 gene was reported to be negative. Shortening of the proximal parts of the limbs, punctate calcifications in the paravertebral soft tissues and in the epiphyseal cartilages of shoulder and knee, coronal cleft in the vertebral bodies and cataract were determined in the postnatal period. The patient was considered to be a case of rhizomelic chondrodysplasia punctata (RCDP). Growth retardation and mental retardation were determined during follow-up of the patient.