Abstract
Summary: Cerebro-costo-mandibular syndrome is described as rib gap defects associated with the signs of Pierre Robin Syndrome such as micrognathia, posterior localization of the tongue and partial obstruction of the upper respiratory tract. Cerebro-costo-mandibular syndrome, mainly characterized by developmental rib abnormalities, micrognathia, glossoptosis and frequently cleft palate was first described as prenatal growth defect in 1966. The typical finding of the disease is rib gap defects. As a result of these rib gap defects the thorax is narrowed, expansion of the lungs is restricted and respiratory distress is occured. A 5-day-old male baby was administered to emergency room with respiratory distress and he was diagnosed as cerebro-costo-mandibular syndrome because of his small thorax and the significant abnormalities of first to sixth ribs which are initially seen as fractures. He was the first child of consangious parents and had dysmorphic face features, small and low located ears, high hard palate and micrognathia. The baby died when he was 3-month-old because of respiratory tract infection. We reported the case for its rarely seen situation and to put the diagnosis "Serebro-costo-mandibular syndrome" in mind if costal abnormalities is associated with Pierre Robin Syndrome findings.
References
- 1. Silverman FN, Strefling AM, Stevenson DK, Lazarus J. Cerebro-costo-mandibular Syndrome. J Pediatr 1980;97(3):406-16
- 2. Smith KG,Sekar KC. Cerebrocostomandibular syndrome.Case report and literature review. Clin Pediatr 1985;24(4):223-5
- 3. Plotz FB, von Essen AJ, Bosschaart AN, Bos AP. Cerebro-costo- mandibular Syndrome. Am J Med Genet 1996;62(3):286-92
- 4. Harris DJ, Fellows RA. The course of the cerebrocostomandibular syndrome. Birth Defects Orig Artie Ser 1977; 13(3c): 117-30
- 5. Leroy JG, Dews EA, Vanden Bulcke LJ, Robbe NS. Cerebro- costo-mandibular syndrome with autosomal dominant inheritance. J Pediatr 1981;99:441-43
- 6. Trautman MS, Schelley SL, Stevenson DK. Cerebro-costo- mandibular syndrome; a familial case consistent with autosomal recessive inheritance.(Letter) J Pediatr 1985;107:990-91
- 7. Drossou - Agakidou V, Andreou A, Soubassi Griva V, Pandouraki M. Cerebrocosto mandibular syndrome in four sibs, two pairs of twins
- J Med Genet 1991;28:704-707
- 8. Merlob P, Schonfeld A, Grunebaum A, Mor N, Reisner SH
- Autosomal dominant cerebro-costo-mandibular syndrome: ultrasonographic and clinical findings. Am J Med Genet 1987; 26:195- 202
- 9. Kirk EP, Arbuckle S, Ramm PL, Ades LC. Severe micrognathia, cleft palate, absent olfactory tract and abnormal rib development; cerebro-costo-mandibular syndrome or a new syndrome? Am J Med Genet 1999;84(2): 120-24
Abstract
Özet: Serebrokostomanbibular Sendrom, başlıca bulguları mandibular hipoplazi, dilin posterior yerleşimi ve bunun sonucunda gelişen parsiyel üst solunum yolu obstrüksiyonu olan Pierre Robin Sendromunun kosta anomalileriyle birlikteliği şeklinde tanımlanır. Gelişimsel kosta anomalileri, mikrognati, glossoptozis ve sıklıkla yarık damak ile karakterize Serebrokostomandibular Sendrom ilk kez 1966'da prenatal büyüme defekti olarak tanımlanmıştır. Hastalığın tipik bulgusu kosta anomalileridir. Kosta anomalileri sonucu göğüs kafesi çapının daralması, akciğer ekspansiyonunun kısıtlanmasına ve değişik derecelerde respiratuar sorunlara neden olur. Solunum sıkıntısı nedeniyle acil poikliniğimize başvuran 5 günlük bir erkek hastada, göğüs kafesidarlığının dikkati çekmesi ve çekilen akciğer grafisinde posterior ilk 6 kostada ilk planda fraktür izlenimi veren kosta anomalilerinin saptanması ile Serebrokostomandibular Sendrom tanısı konuldu. Aralarında akraba evliliği olan anne babanın ilk çocuğu olan vakamızda yüz görünümü dismorfik, kulaklar küçük ve düşük yerleşimli, yüksek damak ve mikrognati vardı. Hastamız 3 aylıkken alt solunum yolu infeksiyonu nedeniyle kaybedildi. Biz bu vakayı nadir olarak tespit edilmesi ve Pierre Robin Sendromu bulguları gösteren bir hastada kosta anomalileride görülürse Serebrokostomandibular Sendrom tanısınında akılda tutulması açısından yayınlamayı uygun gördük.
References
- 1. Silverman FN, Strefling AM, Stevenson DK, Lazarus J. Cerebro-costo-mandibular Syndrome. J Pediatr 1980;97(3):406-16
- 2. Smith KG,Sekar KC. Cerebrocostomandibular syndrome.Case report and literature review. Clin Pediatr 1985;24(4):223-5
- 3. Plotz FB, von Essen AJ, Bosschaart AN, Bos AP. Cerebro-costo- mandibular Syndrome. Am J Med Genet 1996;62(3):286-92
- 4. Harris DJ, Fellows RA. The course of the cerebrocostomandibular syndrome. Birth Defects Orig Artie Ser 1977; 13(3c): 117-30
- 5. Leroy JG, Dews EA, Vanden Bulcke LJ, Robbe NS. Cerebro- costo-mandibular syndrome with autosomal dominant inheritance. J Pediatr 1981;99:441-43
- 6. Trautman MS, Schelley SL, Stevenson DK. Cerebro-costo- mandibular syndrome; a familial case consistent with autosomal recessive inheritance.(Letter) J Pediatr 1985;107:990-91
- 7. Drossou - Agakidou V, Andreou A, Soubassi Griva V, Pandouraki M. Cerebrocosto mandibular syndrome in four sibs, two pairs of twins
- J Med Genet 1991;28:704-707
- 8. Merlob P, Schonfeld A, Grunebaum A, Mor N, Reisner SH
- Autosomal dominant cerebro-costo-mandibular syndrome: ultrasonographic and clinical findings. Am J Med Genet 1987; 26:195- 202
- 9. Kirk EP, Arbuckle S, Ramm PL, Ades LC. Severe micrognathia, cleft palate, absent olfactory tract and abnormal rib development; cerebro-costo-mandibular syndrome or a new syndrome? Am J Med Genet 1999;84(2): 120-24
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Articles |
| Authors | |
| Publication Date | February 1, 2002 |
| Published in Issue | Year 2002 Volume: 33 Issue: 1 |