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Skeletal dysplasia: report of four cases.

Yıl 2015, Cilt 46, Sayı 1, 32 - 35, 21.01.2015

Öz

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 and3th 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. 

Kaynakça

  • Shohat M, Rimoin DL. The Skeletal Dysplasias. In: Lifshitz. Pediatric Endocrionology. New York: Informa Healthecare; 2007. p.145-162.
  • Jones KL, Jones M. Thanatophoric Dysplasia. In J. M. Jones KL. Smith's Recognizable Patterns Of Human Malformation. Philadelphia: Saunders; 2013. p.448,638.
  • Sharony R, Browne C, Lachman RS, Rimoin DL. Prenatal diagnosis of the skeletal dysplasias. Am J Obstet Gynecol. 1993;169:668–675.
  • Bowerman RA. Anomalies of the fetal skeleton:Sonographic findings. AJR. 1995;164:973-9.
  • Barbosa-Neto, Oriolli C.The birth prevalence rate for skeletal dysplasias. J Med Genet. 1986;23:328-32.
  • Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101-116.
  • Fink IJ, Filly RA, Callen PW, Fiske CC. Sonographic diagnosis of thanatophoric dwarfism in utero. J Ultrasound Med. 1982;1:337-339.
  • Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009 ;11(2):127-33.
  • Maroteaux P, Lamy M, Robert JM. Thanatophoric dwarfism. Presse Med. 1967;75:2519.
  • Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet. 1995;9(3):321-8.
  • Langer LO, Yang SS, Hall JG, Sommer A. Kottamasu SR, Globi M et al. Thanatophoric dysplasia and cloverleaf skull. Am J Med Genet. Suppl 1987;3:167-179.
  • Corsello G, Maressi E, Rossi C, Giuffre L, Cittadini E. Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings. Am J Med Genet. 1992;42:122-126.
  • Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet. 1988 ;42(2):237-48.
  • Wenstrup RJ, Willing MC, Starman BJ, Byers PH. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet.1990;46(5):975-82.
  • Barnes AM, Chang W, Morello R, Cabral W, Weis M et al. Deficiency of cartilage associated protein in recessive lethal osteogenesis imperfecta. New Engl J Med. 2006;355:2757-2764.
  • Escribano-Rey RJ, Duart-Clemente J, Martínez de la Llana O, Beguiristáin-Gúrpide JL. Osteogenesis imperfecta: Treatment and results of a case series. Rev Esp Cir Ortop Traumatol. 2014 ;58(2):114-9
  • Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH. et al. Mutation and polymorphism spectrum in ostoegenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Molec Genet. 2009;18:463-471.
  • Byers PH. Osteogenesis imperfecta.In: Royce, P. M.; Steinmann, B. : Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects. New York: Wiley-Liss ;1993. p. 317-350.
  • Samson GR. Skeletal dysplasias with osteopenia in the newborn: the value of alkaline phosphatase. J Matern Fetal Neonatal Med. 2005 Mar;17(3):229-31.
  • Grigelioniene G, Geiberger S, Papadogiannakis N, Mäkitie O, Nishimura G, Nordgren A et al. The phenotype range of achondrogenesis 1A. Am J Med Genet A. 2013;161(10):2554-8.

Dört iskelet displazisi olgusu.

Yıl 2015, Cilt 46, Sayı 1, 32 - 35, 21.01.2015

Öz

Giriş: Tanatoforik displazi (TD) ve Osteogenezis Imperfekta (OI) kemik deformiteleri ve solunum yetmezliği nedeniyle hayatın ilk yılında ölüm ile sonlanan iskelet displazileridir.

Olgu Sunumu: İlk iki vaka prenatal takiplerinde TD’den 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.

Anahtar Kelimeler: Antenatal tanı, İskelet displazisi, Osteogenezis imperfekta, Tanatoforik displazi

Kaynakça

  • Shohat M, Rimoin DL. The Skeletal Dysplasias. In: Lifshitz. Pediatric Endocrionology. New York: Informa Healthecare; 2007. p.145-162.
  • Jones KL, Jones M. Thanatophoric Dysplasia. In J. M. Jones KL. Smith's Recognizable Patterns Of Human Malformation. Philadelphia: Saunders; 2013. p.448,638.
  • Sharony R, Browne C, Lachman RS, Rimoin DL. Prenatal diagnosis of the skeletal dysplasias. Am J Obstet Gynecol. 1993;169:668–675.
  • Bowerman RA. Anomalies of the fetal skeleton:Sonographic findings. AJR. 1995;164:973-9.
  • Barbosa-Neto, Oriolli C.The birth prevalence rate for skeletal dysplasias. J Med Genet. 1986;23:328-32.
  • Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101-116.
  • Fink IJ, Filly RA, Callen PW, Fiske CC. Sonographic diagnosis of thanatophoric dwarfism in utero. J Ultrasound Med. 1982;1:337-339.
  • Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009 ;11(2):127-33.
  • Maroteaux P, Lamy M, Robert JM. Thanatophoric dwarfism. Presse Med. 1967;75:2519.
  • Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet. 1995;9(3):321-8.
  • Langer LO, Yang SS, Hall JG, Sommer A. Kottamasu SR, Globi M et al. Thanatophoric dysplasia and cloverleaf skull. Am J Med Genet. Suppl 1987;3:167-179.
  • Corsello G, Maressi E, Rossi C, Giuffre L, Cittadini E. Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings. Am J Med Genet. 1992;42:122-126.
  • Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet. 1988 ;42(2):237-48.
  • Wenstrup RJ, Willing MC, Starman BJ, Byers PH. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet.1990;46(5):975-82.
  • Barnes AM, Chang W, Morello R, Cabral W, Weis M et al. Deficiency of cartilage associated protein in recessive lethal osteogenesis imperfecta. New Engl J Med. 2006;355:2757-2764.
  • Escribano-Rey RJ, Duart-Clemente J, Martínez de la Llana O, Beguiristáin-Gúrpide JL. Osteogenesis imperfecta: Treatment and results of a case series. Rev Esp Cir Ortop Traumatol. 2014 ;58(2):114-9
  • Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH. et al. Mutation and polymorphism spectrum in ostoegenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Molec Genet. 2009;18:463-471.
  • Byers PH. Osteogenesis imperfecta.In: Royce, P. M.; Steinmann, B. : Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects. New York: Wiley-Liss ;1993. p. 317-350.
  • Samson GR. Skeletal dysplasias with osteopenia in the newborn: the value of alkaline phosphatase. J Matern Fetal Neonatal Med. 2005 Mar;17(3):229-31.
  • Grigelioniene G, Geiberger S, Papadogiannakis N, Mäkitie O, Nishimura G, Nordgren A et al. The phenotype range of achondrogenesis 1A. Am J Med Genet A. 2013;161(10):2554-8.

Ayrıntılar

Birincil Dil Türkçe
Bölüm ÇOCUK SAĞLIĞI VE HASTALIKLARI
Yazarlar

Bilge DEMİREL Bu kişi benim


Didem ARMAN
0000-0002-7218-9207


Hatip AYDIN


Sevilay TOPÇUOĞLU


Tuğba GÜRSOY Bu kişi benim


Güner KARATEKİN


Fahri OVALI

Yayımlanma Tarihi 21 Ocak 2015
Yayınlandığı Sayı Yıl 2015, Cilt 46, Sayı 1

Kaynak Göster

Bibtex @ { zktipb236666, journal = {Zeynep Kamil Tıp Bülteni}, issn = {1300-7971}, eissn = {2148-4864}, address = {}, publisher = {Zeynep Kamil Kadın ve Çocuk Hastalıkları EAH}, year = {2015}, volume = {46}, pages = {32 - 35}, doi = {10.16948/zktb.90390}, title = {Dört iskelet displazisi olgusu.}, key = {cite}, author = {Demirel, Bilge and Arman, Didem and Aydın, Hatip and Topçuoğlu, Sevilay and Gürsoy, Tuğba and Karatekin, Güner and Ovalı, Fahri} }
APA Demirel, B. , Arman, D. , Aydın, H. , Topçuoğlu, S. , Gürsoy, T. , Karatekin, G. & Ovalı, F. (2015). Dört iskelet displazisi olgusu. . Zeynep Kamil Tıp Bülteni , 46 (1) , 32-35 . Retrieved from https://dergipark.org.tr/tr/pub/zktipb/issue/22081/236666
MLA Demirel, B. , Arman, D. , Aydın, H. , Topçuoğlu, S. , Gürsoy, T. , Karatekin, G. , Ovalı, F. "Dört iskelet displazisi olgusu." . Zeynep Kamil Tıp Bülteni 46 (2015 ): 32-35 <https://dergipark.org.tr/tr/pub/zktipb/issue/22081/236666>
Chicago Demirel, B. , Arman, D. , Aydın, H. , Topçuoğlu, S. , Gürsoy, T. , Karatekin, G. , Ovalı, F. "Dört iskelet displazisi olgusu.". Zeynep Kamil Tıp Bülteni 46 (2015 ): 32-35
RIS TY - JOUR T1 - Dört iskelet displazisi olgusu. AU - Bilge Demirel , Didem Arman , Hatip Aydın , Sevilay Topçuoğlu , Tuğba Gürsoy , Güner Karatekin , Fahri Ovalı Y1 - 2015 PY - 2015 N1 - DO - T2 - Zeynep Kamil Tıp Bülteni JF - Journal JO - JOR SP - 32 EP - 35 VL - 46 IS - 1 SN - 1300-7971-2148-4864 M3 - UR - Y2 - 2022 ER -
EndNote %0 Zeynep Kamil Tıp Bülteni Dört iskelet displazisi olgusu. %A Bilge Demirel , Didem Arman , Hatip Aydın , Sevilay Topçuoğlu , Tuğba Gürsoy , Güner Karatekin , Fahri Ovalı %T Dört iskelet displazisi olgusu. %D 2015 %J Zeynep Kamil Tıp Bülteni %P 1300-7971-2148-4864 %V 46 %N 1 %R %U
ISNAD Demirel, Bilge , Arman, Didem , Aydın, Hatip , Topçuoğlu, Sevilay , Gürsoy, Tuğba , Karatekin, Güner , Ovalı, Fahri . "Dört iskelet displazisi olgusu.". Zeynep Kamil Tıp Bülteni 46 / 1 (Ocak 2015): 32-35 .
AMA Demirel B. , Arman D. , Aydın H. , Topçuoğlu S. , Gürsoy T. , Karatekin G. , Ovalı F. Dört iskelet displazisi olgusu.. Zeynep Kamil Tıp Bülteni. 2015; 46(1): 32-35.
Vancouver Demirel B. , Arman D. , Aydın H. , Topçuoğlu S. , Gürsoy T. , Karatekin G. , Ovalı F. Dört iskelet displazisi olgusu.. Zeynep Kamil Tıp Bülteni. 2015; 46(1): 32-35.
IEEE B. Demirel , D. Arman , H. Aydın , S. Topçuoğlu , T. Gürsoy , G. Karatekin ve F. Ovalı , "Dört iskelet displazisi olgusu.", Zeynep Kamil Tıp Bülteni, c. 46, sayı. 1, ss. 32-35, Oca. 2015, doi:10.16948/zktb.90390