Rivas A, Campagnaro J, García Y, Brito M, Morantes J

Language: Spanish
References: 16
Page: 183-188
PDF size: 785.74 Kb.

ABSTRACT

Background: Ectrodactyly is a congenital malformation characterized by the presence of clefts in the feet accompanied by aplasia and hypoplasia of the phalanges and metatarsals. It is a rare genetic disorder with an incidence of 1:90,000-100,000 live births and it is not linked to sex. Its genetic pattern is autosomal dominant with a variable genetic penetrance. Clinical diagnosis is made at birth, however it can be prenatal through ultrasound during the first trimester. Management of ectrodactyly includes both surgical and non-surgical treatment. Methods: We reviewed the archive of medical histories from January 2005 to January 2010, we included all patients with an ectrodactyly diagnosis. We found two patients who were treated surgically and were followed-up for three years. Results: The long term evolution was favorable, allowing the patient to wear shoes and walk. There were no recurrences or complications observed. The final results were good according to the Tani et al scale. Discussion: According to our medium and long term results in the management of these two cases of ectrodactyly, we recommend the combination of conservative orthopedic treatment as preparation for surgery and the final resolution with closure of the cleft. The surgical treatment performed and appropriate postoperative management allowed the patient to wear shoes, to improve function and appearance in both cases.

REFERENCES

1. Jindal G, Parmar V, Gupta V: Ectrodactyly/split hand feet malformation. Indian J Hum Genet. 2009; 15(3): 140-2.

2. Durowaye M, Adeboye M, Yahaya-Kongoila S, Adaje A, Adesiyun O, Ernest SK, et al: Familial ectrodactyly syndrome in a Nigerian child: a case report. Oman Med J. 2011; 26(4): 275-8.

3. Tani Y, Ikuta Y, Ishida O: Surgical treatment of the cleft foot. Plast Reconstr Surg. 2000; 105(6): 1997-2002.

4. Alliey G, Razely S, Carlos D: Pie hendido. Tratamiento y conducta. Revista Tobillo y Pie. 2008; 1(2): 9-14.

5. Herreros M, Atobe O, Rodríguez S: Diagnóstico prenatal de ectrodactilia, por ecografía, en dos hermanos. Mem Inst Investig Cienc Salud. 2005; 3(1): 65-7.

6. Buss PW: Cleft hand/foot: clinical and developmental aspects. J Med Genet. 1994; 31(9): 726-30.

7. Duijf PH, van Bokhoven H, Brunner HG: Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet. 2003; 12(1): 51-60.

8. Tridib K, Ratanbali S: Familial ectrodactyly split hand foot malformation. Journal Anat Soc. 2008; 57(2): 151-4.

9. Lapaire O, Schiesser M, Peukert R, Holzgreve W, Tercanli S: Split hand and foot malformation: ultrasound detection in the first trimester. Ultrasound Obstet Gynecol. 2002; 20(5): 511-2.

10. Pinette M, García L, Wax J, Cartin A, Blackstone J: Familial ectrodactyly. J Ultrasound Med. 2006; 25(11): 1465-7.

11. Abraham E, Waxman B, Shirali S, Durkin M: Congenital cleft-foot deformity treatment. J Pediatr Orthop. 1999; 19(3): 404-10.

12. Blauth W, Borisch NC: Cleft feet: proposals for a new classification based on roentgenographic morphology. Clin Ortho. 1990; 258: 41-8.

13. Noya F, Feijóo M, Cotillo J, El-Youssef Y, Jiménez A, Valle M: Pie hendido bilateral. A propósito de un caso. Acta ortopédica Castellano-Manchega. 2000; 1(1): 42-5.

14. Beaty J: Malformaciones congénitas de la extremidad inferior. En: Canale T, Beaty J: Campbell Cirugía ortopédica. 11a ed. Barcelona: Elsevier España; 2010. pp. 1063-179.

15. Epeldegui T: Deformidades congénitas del pie. En: Martin Oliva X, Vila y Rico J, Viladot Voegeli A: Tratado de cirugía del antepie. Barcelona: Euromedice; 2010. pp. 33-8.

16. Javed E, Sultan M: Familial ectrodactyly and its ocular associations. Pak J Ophtalmol. 2008; 24(1): 26-8.