Öz
Holt-Oram Sendromu, dzellikle atrial septal defekt ve bas parmak anomalileri ile karakterize otozomal dominant bir sendromdur. Bunlara ek olarak, Ust ekstremite ve kardiovaskiler sistemin diger anomalileri de gértilebilmektedir,Bu makalede tist ekstremite ve kardiovasktiler sistem anomalilerinin yanisira, vertebra ve ig organ anomalileri de gosteren bir HoltOram Sendromu olgusu sunulmaktadir.
Anahtar Kelimeler
; Otozomal dominant sendromlar Holt-Oram Sendromu VATER Sendromu TAR Sendromu Kalp anomalileri iskelet sistemi anomatlileri.
Etik Beyan
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Destekleyen Kurum
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Proje Numarası
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Teşekkür
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Kaynakça
- 1. Adeyokunnu Adetunii A . Radial aplasia and Amegakaryocytic Thrombocytopenia (TAR Syndrome) among Nigerian Children. AJDC. 138 ; 345-348, 1984.
- 2. Angel E Lin Perlaff Joseph K : Upper Limb Malformation Associated with Congenital Heart Disease. Am. J Cardiol. 55 : 1576-1583, 1985.
- 3. “4 Fernbach SK Glass RBJ : The expanted spectrum of limb anomalies in the VATER association. Pediatric Radiol. 18 : 215-220, 1988.
- 4. Harris Leonard C Osborne William P : Congenital absence or hypoplasia of the radius with ventricular septal defect : Ventriculo-radial dysplasia. J Pediatr : 68 (2) ; 265-272, 1966.
- 5. Jaiyesimi F Antia AU : Extracardiac defects in children with congenital heart disease. British Hearth Journal, 42 : 475-479, 1979. &.
- 6. Lenz W : Genetics and Limb Deficiencies. Clin. Orthop. Related Research. 148 : 9-17, 1980.
- 7. Massumi RA Nutter DO: The Sydrome of Familial Defects of Heart and Upper Extremities (Holt-Oram Syndrome). Circulation. 34 : 65-76, 1966.
- 8. Smith Ann T Sack George H Taylor George J: Holt-Oram Syndrome. Pediatr. 95 (4) : 538-543, 1979. cr
- 9. Tamari Israel Goodman Richard M : Upper Limb-Cardiovascular Syndromes : A Description of Two New Disorders with a Classification. Chest, 65 : 632-639, 1974.
Öz
Holt-Oram Syndrome, characterized especially with atrial septal
defect and anomalies of thumb, is an otosomal dominant syndrome.
Additionally other anomalies of the upper extremities and cardiovascular system can also be seen.
In this article, a case of Holt-Oram Syndrome, which shows anomalies of vertebrae and internal organs in addition to upper extremities and cardiovascular system anomalies is presented.
Anahtar Kelimeler
Otosomai dominant syndromes Holt-Oram Syndrome VATER Syndrome TAR Syndrome Cardiac anomalies Skeletal System anomalies
Proje Numarası
-
Kaynakça
- 1. Adeyokunnu Adetunii A . Radial aplasia and Amegakaryocytic Thrombocytopenia (TAR Syndrome) among Nigerian Children. AJDC. 138 ; 345-348, 1984.
- 2. Angel E Lin Perlaff Joseph K : Upper Limb Malformation Associated with Congenital Heart Disease. Am. J Cardiol. 55 : 1576-1583, 1985.
- 3. “4 Fernbach SK Glass RBJ : The expanted spectrum of limb anomalies in the VATER association. Pediatric Radiol. 18 : 215-220, 1988.
- 4. Harris Leonard C Osborne William P : Congenital absence or hypoplasia of the radius with ventricular septal defect : Ventriculo-radial dysplasia. J Pediatr : 68 (2) ; 265-272, 1966.
- 5. Jaiyesimi F Antia AU : Extracardiac defects in children with congenital heart disease. British Hearth Journal, 42 : 475-479, 1979. &.
- 6. Lenz W : Genetics and Limb Deficiencies. Clin. Orthop. Related Research. 148 : 9-17, 1980.
- 7. Massumi RA Nutter DO: The Sydrome of Familial Defects of Heart and Upper Extremities (Holt-Oram Syndrome). Circulation. 34 : 65-76, 1966.
- 8. Smith Ann T Sack George H Taylor George J: Holt-Oram Syndrome. Pediatr. 95 (4) : 538-543, 1979. cr
- 9. Tamari Israel Goodman Richard M : Upper Limb-Cardiovascular Syndromes : A Description of Two New Disorders with a Classification. Chest, 65 : 632-639, 1974.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Patoloji |
| Bölüm | Makaleler |
| Yazarlar | |
| Proje Numarası | - |
| Yayımlanma Tarihi | 31 Aralık 1994 |
| Yayımlandığı Sayı | Yıl 1993 Cilt: 46 Sayı: 4 |