Farah Dayana ZAHEDİ1, Siti Hajar SANUDİN, Salina HUSAİN1, Balwant Singh GENDEH

A Rare Case of frontonasal malformation: The clinical features and surgical outcome

Frontorhiny is a type of frontonasal malformation that also known as median facial cleft syndrome characterised by hypertelorism, wide nasal bridge, short nasal ridge,splayed nasal bone, bifid nasal tip, widened columellar, long philtrum and midline notch in the upper lip. This sporadic congenital disorder is a rare autosomal recessive caused by homozygous mutations of ALX 3 gene, which is important in facial embryogenesis. There were 42 cases reported worldwide from 1980 to 2009, mainly from Brazil (10 cases), followed by London (5 cases), Bahamas (4 cases) and Venezuel a (3 cases). We present the first extremely rare case of frontorhiny in Malaysia, highlighting the clinical features and the surgical outcome. Frontorhiny, ALX-3 related FNM is an extremely rare frontonasal malformation with typical clinical features that presents a surgical reconstructive challenge and some cases may need multi stage surgery.

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Nguyen S. Pham, Amir Rafii, Jia Liu, Simeon A Boyadijiev and Travis T Tollefson, Clinical and Genetic Characterization of Frontorhiny. Report of 3 Novel Cases and Discussion of the Surgical Management, Arch Facial Plast Surg 2011; 13: 415-420.

Meinecke P and Blunck W, Frontonasal Dysplasia, congenital heart defect and short stature: a further observation, J Med. Genet 1989; 26: 408-409.

De Moor, M.M.A, Baruch R and Human D.G, Frontonasal Dysplasia associated with tetralogy of Fallot, J. Med. Genet 1987; 24: 107-109.

Lees MM, Kangesu L, Hall P, Hennekam RC, Two Siblings with an unusual nasal malformation:further instances of craniorhiny, Am J Med Genet A 2007; 143A: 3290-3294.

Twigg SR, Versnel SL, Nurnberg G, et al. Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX 3 homebox gene. Am J Hum Genet 2009; 84: 698-705.

Uz E, Alanay Y, Aktas D, et al. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet 2010; 86: 789-796.

Sedano HO and Gorlin RJ, Frontonasal Malformations as a field defect and in syndromic association, Oral Surg Oral Med Oral Pathol 1998; 65: 704-710.

Moore K and Persaud T, The Developing Human: Clinically Oriented Embryology, In Moore K, ed 5th ed Philadelphia, PA:WB Saunders; 1993

Sadler T, Langman`s Medical Embryology, In Sadler T, ed 6th ed Baltimore: William and Wilkins 1990.

Chris T Dee, Christopher R Szymonick, Peter E.D Mills and TokiharuTakahashi, Defective Neural Crest Migration revealed by a zebra fish model of ALX 1-related frontonasal dysplasia, Human Molecular Genetics 2013; 22: 239-251.

Ersan Odaci, Barry M Schaitkin, Francisco Talavera and Arlen D Meyers, Face Embryology, Otorhinolaryngology and Facial Plastic Surgery Articles Oct 19, 2016.