Case Report
Year 2016,
Volume: 41 Issue: 3, 600 - 603, 30.09.2016
Abstract
Fraser Syndrome is a rare genetic disease with autosomal recessive inheritance, characterized with cryptophtalmos, cutaneous syndactyly, laryngeal and genital anomalies. To provide for additional preparation during the opening of the airway, knowing that there is also a condition of laryngeal atresia or stenosis accompanied to syndrome can be life-saving. In this article a neonate case with laryngeal anomalies whose findings were consistent with the Fraser Syndrome was discussed with the literature.
Keywords
References
- Fraser GR. “Our genetical load”: a review of some aspects of genetical variation. Ann Hum Genet. 1962;25:387-415.
- Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC. Isolated and syndromic cryptophthalmos. Am J Med Genet. 1986;25:85-98.
- Martínez-Frías ML, Bermejo Sánchez E, Félix V, Calvo Celada R, Ayala Garcés A, Hernández Ramón F. Síndrome de Fraser: frecuencia ennue stro medio y aspectos clínico-epidemiológicos de una serie consecutiva de casos. An Esp Pediatr. 1998;48:634- 8.
- Slavotinek AM, Tifft CJ. Fraser syndrome and cryptoophtalmus: a review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet. 2002;39:623- 633.
- Feldman E, Shalev E, Weiner E, Cohen H, Zuckerman H. Microphthalmia B prenatal ultrasonic diagnosis: a case report. Prenat Diagn. 1985;5:205-7.
- Boyd PA, Keeling JW, Lindenbaum RH. Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. Am J Med Genet. 1988;31:159-68.
- Gündüz K, Günalp I. Congenital symblepharon (abortive meningoencephalocele. Ophthal Plast Reconstr Surg. 1997;13:139-41. associated with
- Berg C, Geipel A, Germ U, Petersen-Hansen A, Koch-Dörfler M, Germbruch U. Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature. Ultrasound Obstet Gynecol. 2001;18:76-80.
- Aytes PA, Ferrer FE, Fernandez VR, Marzal UL, Sanchez FA. Síndrome de Fraser, agenesia renal ascitis fetal. An Esp Pediatr. 1993;39:163-6.
- Amr SS. Unilateral cryptophthalmos with renal agenesis and syndactyly (Fraser syndrome). Report of a case with review of the literature. Saudi Med J. 1996;17:251-5.
- Impallomeni M1, Subramanian D, Mahmood N, Illes J. Fraser syndrome in a 96-year-old female. Age Ageing. 2006;35:642-3.
- Slavotinek A, Li C, Sherr EH, Chudley AE. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am J Med Genet A. 2006;140:1909-14.
Year 2016,
Volume: 41 Issue: 3, 600 - 603, 30.09.2016
Abstract
Fraser sendromu kriptooftalmus, kütanöz sindaktili, laringeal ve ürogenital anomaliler ile karakterize nadir görülen otozomal resesif geçişli bir genetik hastalıktır. Hava yolu açılması sırasında ek hazırlık yapılmasının sağlanması için, laringeal atrezi veya darlığın sendroma eşlik ettiğinin bilinmesi hayat kurtarıcı olabilir. Burada laringeal anomalisi olan, Fraser Sendromu ile uyumlu bulguları saptanan yenidoğan olgusu literatür eşliğinde tartışılmıştır.
Keywords
References
- Fraser GR. “Our genetical load”: a review of some aspects of genetical variation. Ann Hum Genet. 1962;25:387-415.
- Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC. Isolated and syndromic cryptophthalmos. Am J Med Genet. 1986;25:85-98.
- Martínez-Frías ML, Bermejo Sánchez E, Félix V, Calvo Celada R, Ayala Garcés A, Hernández Ramón F. Síndrome de Fraser: frecuencia ennue stro medio y aspectos clínico-epidemiológicos de una serie consecutiva de casos. An Esp Pediatr. 1998;48:634- 8.
- Slavotinek AM, Tifft CJ. Fraser syndrome and cryptoophtalmus: a review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet. 2002;39:623- 633.
- Feldman E, Shalev E, Weiner E, Cohen H, Zuckerman H. Microphthalmia B prenatal ultrasonic diagnosis: a case report. Prenat Diagn. 1985;5:205-7.
- Boyd PA, Keeling JW, Lindenbaum RH. Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. Am J Med Genet. 1988;31:159-68.
- Gündüz K, Günalp I. Congenital symblepharon (abortive meningoencephalocele. Ophthal Plast Reconstr Surg. 1997;13:139-41. associated with
- Berg C, Geipel A, Germ U, Petersen-Hansen A, Koch-Dörfler M, Germbruch U. Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature. Ultrasound Obstet Gynecol. 2001;18:76-80.
- Aytes PA, Ferrer FE, Fernandez VR, Marzal UL, Sanchez FA. Síndrome de Fraser, agenesia renal ascitis fetal. An Esp Pediatr. 1993;39:163-6.
- Amr SS. Unilateral cryptophthalmos with renal agenesis and syndactyly (Fraser syndrome). Report of a case with review of the literature. Saudi Med J. 1996;17:251-5.
- Impallomeni M1, Subramanian D, Mahmood N, Illes J. Fraser syndrome in a 96-year-old female. Age Ageing. 2006;35:642-3.
- Slavotinek A, Li C, Sherr EH, Chudley AE. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am J Med Genet A. 2006;140:1909-14.
There are 12 citations in total.
Details
| Subjects | Health Care Administration |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | September 30, 2016 |
| Published in Issue | Year 2016 Volume: 41 Issue: 3 |
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