Two cases with skeletal dysplasia: A Case Report

Öz

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 21^th 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.

Conclusion: The aim of this case presentations is to evaluate the prenatal diagnostic criteria of skeletal dysplasias, lethal and non-lethal skeletal dysplasia.

 

Anahtar Kelimeler

• skeletal dysplasia, prenatal ultrasonography, newborn

İskelet displazili iki yenidoğan: Olgu sunumu

Öz

Giriş: İskelet displazileri kemik büyümesi ve gelişimindeki anormallikler sonucu oluşur. 450 farklı tipi vardır. Prenatal tanıda fetal ultrason, sınıflandırmada moleküler tanı kullanılmaktadır.

Olgu: Birinci olgu 39 haftalık erkek idi. Prenatal yarık damak ve intrauterin gelişme geriliği mevcuttu. Postnatal dönemde hipotoni, yumru ayak, yarık damak, mikrognati ve laringomalazi, dar toraks, az gelişmiş skapula, disloke kaburgalar ve bilateral 11. kaburga saptandı. Kampomelik displazi düşünüldü.  Yardımcı ventilasyon ihtiyacı olan hasta 21. Gününde solunum yetmezliğinden kaybedildi. İkinci olgu 39 haftalık kız idi. Prenatal uzun kemiklerde kısalık ve dar toraks mevcuttu. Akondrogenezis düşünülen hastanın FGFR3 gen analizi negatif bulunmuştu. Postnatal dönemde, ekstremite proksimallerinde kısalık, paravertebral, omuz ve diz epifizinde punktat kalsifikasyonlar, vertebra korpuslarında koronal kleft ve katarakt saptandı. Rizomelik kondrodisplazi düşünüldü. İzleminde büyüme geriliği ve mental retardasyon saptandı.

Sonuç: Bu olgu sunumlarının amacı iskelet displazisinin, letal ve non letal iskelet displazisinin prenatal tanı kriterlerini değerlendirmektir.

 

 

Anahtar Kelimeler

• iskelet displazisi, prenatal ultrasonografi, yenidoğan

Kaynakça

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