Abstract
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.
References
- 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.
Abstract
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
References
- 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.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | PEDIATRICS |
| Authors | |
| Publication Date | January 21, 2015 |
| Published in Issue | Year 2015 Volume: 46 Issue: 1 |
