Öz
Ultrasonografi tekniğindeki gelişmeler fetal anomalilere intrauterin dönemde erken tanı konmasına yardımcı olmuştur. Ancak çok nadir görülen anomaliler intrauterin dönemde atlanabilmekte veya geç tanı konabilmektedir. Bu durumda aileleri travmatize edici bir şekilde etkilemektedir. Akraba evliliği olan ailelerde genetik anomaliler daha yüksek olduğu için bu hastalar ultrasonografik olarak daha detaylı değerlendirilmektedir. Ancak detaylı ultrasonografik inceleme bile bazen yeterli olmamaktadır. Biz hariçte takip edilen ancak doğum eylemine kadar hiçbir fetal anomali tanısı olmayan; doğum eyleminde kliniğimize refere edilen yaşamla bağdaşmayan çok nadir bir fetal anomali olan raine sendromlu olguyu sunmayı amaçladık. Etyolojisi halen bilinmeyen Raine sendromunu literatür eşliğinde tartışmayı planladık.
Anahtar Kelimeler
Kaynakça
- Raine J, Winter RM, Davey A, Tucker SM. Unknown syn- drome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclero- sis. J Med Genet 1989;26:786–788.
- Kan AE, Kozlowski K. New distinct lethal osteosclerot- ic bone dysplasia (Raine syndrome). Am J Med Genet 1992;43:860–864.
- Kingston HM, Freeman JS, Hall CM. A new lethal sclerosing bone dysplasia. Skeletal Radiol 1991; 20: 117–119.
- Monastri K, Salem N, Korbi S, Snoussi N. Microcephaly and intracranial calcification:two new cases. Clin Genet 1997;41:142-143
- Rejjal A. Raine syndrome [letter]. Am J Med Genet 1998;78:382–385.
- Acosta, AX; Peres, LC; Chimelli, LC; Pina-Neto, JM Raine dysplasia: a Brazilian case with a mild radiological involve- ment Clınıcal dysmorphology, 2000;9:99-101
- Sazgar M,Leonard NJ, Renaud DL, et al. İntracranial Calcification, retinopathy and osteopenia: a new syndrome? Pediatr Neurol 2002;26:324-328
- Richert CH, Rieder H, Rehder H, et al. Neuropathology of Raine Syndrome. Acta Neuropathol 2002;102:281-287
- Hulskamp G, Wieczorek D, Rieder H, et al. Raine syndrome: report of a family with three affected sibs and further delin- eation of the syndrome. Clin Dysmorphol 2003;12:153–160
- Güneş T, Kurtoğlu S, Cetin N, et al. Raine syndrome as- sociated with cytomegalovirus infection Turk J Pediatr. 2005;47:89-91.
Öz
Ultrasonography technical developments in the early diagnosis of fetal anomalies in utero has helped. However, a very rare anomaly in utero, or diagnosed late and can be skipped. In this case affect families in a way that is traumatizing. Ultrasonografik is evaluated in more detail for consanguineous marriages higher in families with genetic abnormalities in these patients However, even a detailed ultrasonographic examination is sometimes not enough. We, followed in excluding labor, but no fetal abnormalities were not diagnosed until; in labor who were referred to our clinic fetal anomalies incompatible with life, which is very rare syndrome Raine aimed to present a case. Raine syndrome of still unknown the etiology is aimed to discuss in the literature.
Anahtar Kelimeler
Kaynakça
- Raine J, Winter RM, Davey A, Tucker SM. Unknown syn- drome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclero- sis. J Med Genet 1989;26:786–788.
- Kan AE, Kozlowski K. New distinct lethal osteosclerot- ic bone dysplasia (Raine syndrome). Am J Med Genet 1992;43:860–864.
- Kingston HM, Freeman JS, Hall CM. A new lethal sclerosing bone dysplasia. Skeletal Radiol 1991; 20: 117–119.
- Monastri K, Salem N, Korbi S, Snoussi N. Microcephaly and intracranial calcification:two new cases. Clin Genet 1997;41:142-143
- Rejjal A. Raine syndrome [letter]. Am J Med Genet 1998;78:382–385.
- Acosta, AX; Peres, LC; Chimelli, LC; Pina-Neto, JM Raine dysplasia: a Brazilian case with a mild radiological involve- ment Clınıcal dysmorphology, 2000;9:99-101
- Sazgar M,Leonard NJ, Renaud DL, et al. İntracranial Calcification, retinopathy and osteopenia: a new syndrome? Pediatr Neurol 2002;26:324-328
- Richert CH, Rieder H, Rehder H, et al. Neuropathology of Raine Syndrome. Acta Neuropathol 2002;102:281-287
- Hulskamp G, Wieczorek D, Rieder H, et al. Raine syndrome: report of a family with three affected sibs and further delin- eation of the syndrome. Clin Dysmorphol 2003;12:153–160
- Güneş T, Kurtoğlu S, Cetin N, et al. Raine syndrome as- sociated with cytomegalovirus infection Turk J Pediatr. 2005;47:89-91.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Haziran 2014 |
| Gönderilme Tarihi | 2 Mart 2015 |
| Yayımlandığı Sayı | Yıl 2014 Cilt: 41 Sayı: 2 |