Osteogenesis imperfecta: Treatment and results of a case series

Rey, Rodriguez; Duart, Julio; Llana, O. Martínez de la; Gúrpide, J.L. Beguiristáin

doi:10.1016/j.recote.2014.01.009

Cited by 5 publications

(4 citation statements)

References 24 publications

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“…Bu durum hem otozomal dominant hem de otozomal resesif kalıtılan İD tipleri için geçerlidir. Birçok İD tipinde femur kısalığı [13][14][15][16]. gebelik haftalarında bile başlayabilir ancak akondroplazide femur kısalığı ikinci trimesterin sonlarına doğru belirginleşmektedir.…”

Section: Discussionunclassified

“…Kollajen yapımı hem kantitatif hem de kalitatif olarak etkilenmiştir ve bunun sonucu olarak kemiklerde ağır bir osteoporoz mevcuttur (14,15). Vakaların çoğunda hastalığın ortaya çıkış sebebi COLA1A2 genindeki de novo dominant mutasyondur (16,17). Osteogenesis imperfekta tip II'nin başlıca özellikleri, SGA doğum, şiddetli mikromeli, azalmış toraks çapı, kısa toraks boyu, azalmış mineralizasyon ve kemiklerde çok sayıda kırıklardır.…”

Section: Discussionunclassified

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Dört iskelet displazisi olgusu.

Demirel¹,

Arman²,

Aydın³

et al. 2015

ZKTB

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ÖZET Giriş: Tanatoforik displazi (TD) ve Osteogenezis Imperfekta (OI) kemik deformiteleri ve solunum yetmezliği nedeniyle hayatın ilk yılında ölüm ile sonlanan iskelet displazileridir. Olgular: 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.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 and 3th 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.

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Section: Discussionunclassified

Dört iskelet displazisi olgusu.

Demirel¹,

Arman²,

Aydın³

et al. 2015

ZKTB

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“…La clasificación de Sillence divide la OI en función de la gravedad y la progresión de los síntomas: no deformantes leves (tipo I), letales perinatales (tipo II), graves progresivamente deformantes (tipo III) y moderados (tipo IV) 8,9,14 . Un análisis cuidadoso del patrón de herencia y el fenotipo clínico puede ayudar a guiar las pruebas genéticas cuando están disponibles 9 .…”

Section: A B Discusiónunclassified

“…Por su parte, la invaginación basilar es infrecuente, pero fatal; los síntomas incluyen cefalea, parálisis de nervios craneales inferiores, nistagmos, disfagia, cuadriparesia y ataxia 9 . La cifoscoliosis cervical grave 9,16 , aunque infrecuente, puede causar compresión de la médula espinal, cuyos síntomas incluyen trastornos sensoriales o motores de las extremidades 8 , así como obstrucción pulmonar y compresión de órganos 14,17 . La hipoacusia conductiva y neurosensorial 9,16 es generalmente progresiva y se presenta en el 5% de los niños con OI.…”

Section: A B Discusiónunclassified

Osteogénesis imperfecta: hallazgos clínicos y epidemiológicos en una serie de pacientes pediátricos

Cammarata‐Scalisi¹,

Ramos²,

Silva³

2019

BMHIM

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Introducción: La osteogénesis imperfecta (OI) es el trastorno óseo hereditario más común, con una incidencia de 1 en 10,000 a 25,000 nacimientos. Este trastorno está causado principalmente por mutaciones de los genes que codifican las cadenas del colágeno tipo I. En la mayoría de los casos, se presenta un patrón de herencia autosómico dominante. La OI se caracteriza principalmente por un aumento en la fragilidad ósea que da lugar a fracturas frecuentes que producen dolor, deformidad y discapacidad asociada con otras alteraciones. El objetivo del estudio fue exponer las características clínicas

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An atypical fracture in male patient with osteogenesis imperfecta

Etxebarría-Foronda

Carpintero

2015

ccmbm

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SummarySo-called atypical fractures have been related to prolonged treatment with bisphosphonates. Although there remain unanswered questions with respect to their etiology and physiopathology, it does appear to be a causal relationship. There are many references in the literature about this problem in patients in whom these drugs have been used to treat osteoporosis, but few reports in patients who have received this therapy for the management of osteogenesis imperfecta. The Authors describe a case of a young male patient with osteogenesis imperfecta with a number of historical fractures, and who received treatment with these drugs, initially parenterally and subsequently orally, presenting as a complication of the treatment, an atypical diaphyseal femoral fracture. The characteristics of the fracture are consistent with the updated diagnostic criteria of the American Society for Bone and Mineral Research. The clinical case, its treatment, both surgically and metabolically with teriparatide, and its development over a year, are analysed. The case is notable for, on the one hand, the significance of the presence of this type of fracture in a young patient with this disease, and on the other, because of the administration of teriparatide outside its established clinical indications, with twin objectives: to improve the bone structure of the patient's underlying disease, and to counteract the harmful effects which bisphosphonates may have on this bone.

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Osteogenesis imperfecta: Treatment and results of a case series

Cited by 5 publications

References 24 publications

Dört iskelet displazisi olgusu.

Dört iskelet displazisi olgusu.

Osteogénesis imperfecta: hallazgos clínicos y epidemiológicos en una serie de pacientes pediátricos

An atypical fracture in male patient with osteogenesis imperfecta

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