Nurşen BELET, Ümit BELET, Şükrü KÜÇÜKÖDÜK, Alişan YILDIRAN, Pınar ÖZTÜRK

Treacher Collins Syndrome associated with foot deformity and genital anomalies

Treacher Collins sendromu, mandibulofasiyal disostozis olarak bilinen nadir bir sendromdur. Sendrom başlıca yüz morfolojisini etkiler. Treacher Collins ile ilgili yayınların çoğu sendromun fasiyal özelliklerine odaklanmıştır. Bu yazıda mikropenis, kriptoorşidizm ve metatarsus adduktus deformitesine sahip Treacher Collins sendromlu bir yenidoğan sunulmuştur.

Ayak deformitesi ve genital anomali ile birliktelik gösteren Treacher Collins Sendromu

Treacher Collins syndrome (TCS) is a rare syndrome also known as mandibulofacial dysostosis. It mainly affects facial morphology and therefore, most reports have focused on the facial features of this syndrome. This is the first report of a newborn with typical features of TCS having micropenis, cryptorchidism and metatarsus adductus deformity.

PDF

___

1. Marres HAM, Cremers WRJ, Dixon MJ et al. The Treacher Collins Syndrome. A clinical, radiological, and genetic linkage study on two pedigrees. Arch Otolaryngol Head Neck Surg 1995; 121: 509-514. 2. Branchial arch and oral-acral disorders. In: Gorlin RJ, Cohen MM, Hennekam RCM, eds. Syndromes of the Head and Neck. 4th ed. New York:Oxford University Press, 2001: 790-849. 3. Marszalek B, Wojcicki P, Kobus K et al. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet 2002; 43: 223-233. 4. Jahrsdoerfer RA, Jacobson JT. Treacher Collins syndrome: Otologic and auditory management. J Am Acad Audiol 1995; 6: 93-102. 5. Dixon MJ. Treacher Collins syndrome. Hum Mol Genet 1996; 5: 1391-1396. 6. Jahrsdoerfer RA, Aguilar EA, Yeakley JW et al. Treacher Collins Syndrome: An otologic challenge. Ann Otol Rhinol laryngol 1989; 98: 807-812. 7. Byard RW, Kennedy JD. Diagnostic difficulties in cases of sudden death in infants with mandibular hypoplasia. Am J Forensic Med Pathol 1996; 17: 255-259. 8. Robb LJ, Fraser FC, Der Kaloustran VM. Treacher Collins- Franceschetti syndrome with tracheoesophageal fistula, rectovaginal fistula, and anal atresia: Variant or new syndrome? Am J Med Genet 1991; 39: 119-120. 9. Hansen M, Lucarelli MJ, Whiteman DAH et al. Treacher Collins syndrome: Phenotopic variability in a family including an infant with arhinia and uveal colobomas. Am J Med Genet 1996; 61: 71-74. 10. Larenas-Linnemann DE, Berron-Perez R, Ortega-Martell Ja et al. Treacher-collins syndrome and co-existing dermatomyositis. Ann Allergy Asthma Immunol 1998; 80: 50-54. 11. Bruni L, Angeletti B, Pascale E et al. Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism. Clin Genet 1996; 50: 89-92