Öz
Nager tipi akrofasiyal disostoz, kraniyofasiyal bölge ve ekstremiteleri ilgilendiren deformitelerin olduğu, diğer sistemlere ait anomalilerin eşlik edebildiği nadir görülen bir genetik bozukluktur. Şimdiye kadar yaklaşık 80 vaka bildirilmiştir. Vakamızda belirgin mikrognati , malar ve maksiller hipoplazi, yarık damak, düşük kulak, antevert burun delikleri, sol kulakta işitme azlığı, baş parmak, radius yokluğu, kısa kol, tibia hipoplazisi, ayak bileği deformitesi mevcuttu. Hasta altıncı ayında beslenme güçlüğüne bağlı malnütrisyon ve enfeksiyon nedeniyle kaybedildi. Vakayı, diğer kraniyofasiyal (mandibulofasiyal) ve akrofasiyal disostoz sendromlarından ayırt edici özeliklerini vurgulamak, sendromda alt ekstremite anomalileri nadir olmasına rağmen vakamızda farklı bir klinik prezentasyon bulunduğu için sunmaya değer bulduk.
Anahtar Kelimeler
Kaynakça
- Thapa R, Pramanik S, Mukhopadhyay M, Ghosh A. Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas. Indian J Pediatr 2006; 73: 631-632.
- Friedman RA ,Wood E, Pransky SM, Seid AB, Kearns DB. Nager acrofacial dysostosis: management of a difficult airway. Int J Pediatr Otorhinolaryngol 1996; 35: 69-72.
- Opitz JM. Acrofacial dysostosis 1, Nager type. Orphanet Encyclopedia, May 2003.
- Chemke J, Mosilner BM, Ben-Itzhak I , Zurkovski L, Ophir D.Autozomal recessive inheritence of Nager acrofacial dysostosis. J Med Genet 1998; 25: 230-232.
- David A, Mercier J, Verloes A. Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis? Am J Med Genet 1996;62:1-5.
- Paladini D, Tartaglione A, Lambenrti A, Lapadula C, Martinelli P. Prenatal ultrasound diagnosis of Nager syndrome. Ultrasound Obstet Gynecol 2003; 21: 195-197.
Öz
Nager type acrofacial dysostosis is a rare genetic disorder which is seen with the deformities of craniofacial region and extremities,which may accompany with sistemic disorders. To date approximately 80 cases have been reported. Our case had prominent micrognathia, malar and maxillary hypoplasia, cleft palate, low set ears, antevert nares, hearing loss in the left ear, the absence of thumb and radius, short arm, hypoplasia of the tibia and ankle deformity. The patient was died because of the malnutrition due to feeding difficulties and infection at the sixth month. We herein present this case to emphasize the distinguishing features of this syndrome from other syndromes of craniofacial (mandibulofacial) and acrofacial dysostosis as our case had a different clinical presentation since lower extremity anomalies are rarely seen in Nager type acrofacial dysostosis
Anahtar Kelimeler
Kaynakça
- Thapa R, Pramanik S, Mukhopadhyay M, Ghosh A. Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas. Indian J Pediatr 2006; 73: 631-632.
- Friedman RA ,Wood E, Pransky SM, Seid AB, Kearns DB. Nager acrofacial dysostosis: management of a difficult airway. Int J Pediatr Otorhinolaryngol 1996; 35: 69-72.
- Opitz JM. Acrofacial dysostosis 1, Nager type. Orphanet Encyclopedia, May 2003.
- Chemke J, Mosilner BM, Ben-Itzhak I , Zurkovski L, Ophir D.Autozomal recessive inheritence of Nager acrofacial dysostosis. J Med Genet 1998; 25: 230-232.
- David A, Mercier J, Verloes A. Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis? Am J Med Genet 1996;62:1-5.
- Paladini D, Tartaglione A, Lambenrti A, Lapadula C, Martinelli P. Prenatal ultrasound diagnosis of Nager syndrome. Ultrasound Obstet Gynecol 2003; 21: 195-197.
Ayrıntılar
| Diğer ID | JA36ZG62VH |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Haziran 2010 |
| Gönderilme Tarihi | 1 Haziran 2010 |
| Yayımlandığı Sayı | Yıl 2010 Cilt: 4 Sayı: 3 |