Two cases with skeletal dysplasia: A Case Report

Year 2017, Volume: 48 Issue: 1, 16 - 19, 01.03.2017

Elif Özalkaya , Sevilay Topçuoğlu , Arzu Akdağ Fahri Ovalı Güner Karatekin , RESUL Arısoy

Abstract

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.

 

Keywords

skeletal dysplasia, prenatal ultrasonography, newborn

İskelet displazili iki yenidoğan: Olgu sunumu

Abstract

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.

 

 

Keywords

iskelet displazisi, prenatal ultrasonografi, yenidoğan

References

• Warman ML, Cormier-Daire V, Hall C et.al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011 May; 155A: 943-968.
• Superti-Furga A. Growing bone knowledge. Clin Genet. 2004; 66: 399.
• Rasmussen SA, Bieber FR, Benacerraf BR. Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet. 1996; 61:49.
• Camera G, Mastroiacovo P. Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defects. Prog Clin Biol Res. 1982; 104:441.
• Andersen PE. Prevalence of lethal osteochondrodysplasias in Denmark. Am J Med Genet. 1989; 32:484.
• Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias . J Med Genet. 1986; 23(4):328.
• Castilla EE, Orioli IM. Prevalence rates of microtia in South America. Int J Epidemiol. 1986; 15 :364.
• Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet 2007; 143:1- 18.
• Goncalves LF, Espinoza J, Mazor M. Newer imaging modalities in the prenatal diagnosis of skleteal dysplasia.Ultrasound Obstet Gynecol 2004;24:115-120
• Chitayat D, Keating S, Zand DJ, Costa T, Zackai EH, Silverman E, et.al. Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Am J Med Genet A. 2008;146:3038.
• Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: a clinical diagnostic and radiological review. Clin Dysmorphol. 2008;17(4):229.
• Mansour S, Hall CM, Pembrey ME, Young ID, A clinical and genetic study of campomelic dysplasia.. J Med Genet. 1995;32(6):415.
• Sharony R, Browne C, Lachman RS. Prenatal diagnosis of the skeletal dysplasias. Am J Obstet Gynecol 1993; 169:668- 675
• Parilla BV, Leeth EA, Kambich MP. Antenatal detection of skeletal dysplasias. J Ultrasound Med 2003; 22:255-258.
• Tretter AE, Saunders RC, Meyers CM et.al. Antenatal diagnosis of lethal skeletal dysplasias. Am J Med Genet 1998; 75: 518- 522.
• Schramm T, Glonıng K.P., Mınderer S et.al. Prenatal sonographic diagnosis of skeletal dysplasis. Ultrasound Obstet Gynecol 2009; 34:160-170.
• Doray B, Favre R, Viville B. Prenatal sonographic diagnosis of skeletal dysplasias. Areport of 47 cases. Am Genet 2000; 43:163- 169. Lee S, Kim T, Lee H. Length measurement of fetal long bone and fetal anomaly detection. Avaible from http://www.webmed.central.com.
• Kurtz AB, Needleman L, Wapner RJ et. al. Usefulness of a short femur in the in utero detection of skeletal dysplasias. Radiology. 1990; 177:197.
• Krakow D, Lachman R. S, Rimoin D. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med.2009;11:127-33.
• Ruano R, Molho M, Roume J. Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography. Ultrasound Obstet Gynecol. 2004; 24:134.
• Özlü T, Tulin Ozcan. Fetal isolated short femur in the second trimester and adverse pregnancy outcomes. Prenatal Diagnosis. 2013; 33: 1063-1069
• Kanal E, Barkovich AJ, Bell C. AJR Am J Roentgenol. 2007;188: 1447. ACR guidance document for safe MR practices: 2007.
• Cassart M, Massez A, Cos T, Tecco L, Thomas D, Van Regemorter N, et.al. Contribution of three-dimensional computed tomography in the assessment of fetal skeletal dysplasia. Ultrasound Obstet Gynecol. 2007;29 :537.