González-Ballano I, Savirón-Cornudella R, Alastuey-Aisa M, Garrido-Fernández P, Lerma-Puertas D

Language: Spanish
References: 18
Page: 490-495
PDF size: 594.21 Kb.

ABSTRACT

Split hand-foot malformation is a rare disorder inherited in an autosomal dominant pattern with variable expression. Inour case, it was detected early by ultrasound in the twelfth week of gestation. The sonographic findings were bilateral split hands and feet. No other alterations were observed in the rest of the systematic assessment of the foetal anatomy. The pathological findings were consistent with the sonographic diagnosis. Prenatal diagnosis by corionic villus sampling was performed and voluntary termination of gestation decided.

REFERENCES

1. Lapaire O, Schiesser M, Peukert R, et al. Split hand and foot malformation: ultrasound detection in the first trimester. Ultrasound Obstet Gynecol 2002;20:511-512.

2. Elliott AM, Evans JA, Chudley AE. Split hand foot malformation (SHFM). Clin Genet 2005:68:501-505.

3. Sorasio L, Biamino E, Garelli G, Ferrero B, Silengo MC. A novel H208D TP63 mutation in a familial case of ectrodactyly- ectodermal dysplasia-cleft lip-palate syndrome without clefting. Clinical and Experimental Dermatology 2009;34:726-728.

4. Jindal G, Parmar VR, Gupta VK. Ectrodactyly/split hand feet malformation. Indian J Hum Genet. 2009; Sep-Dec; 15:140-142.

5. Arbués J, Galindo A, Puente JM, García Vegal M, Hernández M, De la Fuente P. Typical Isolated Ectrodactyly of Hands and Feet: Early Antenatal Diagnosis. J Maternal-Fetal and Neonat Medicine 2005;17:299-301.

6. Miller CI, Hashimoto K, Shwayder T, et al. What syndrome is this? Ectrodactyly, ectodermal dysplasia and cleft palate (EEC) syndrome. Pediatr Dermatol 1997;14:239.

7. Kasmann B, Ruprecht KW. Ocular manifestations in a father and son with EEC syndrome. Graefes Arch Clin Exp Ophthalmol 1997;235:512.

8. Buss PW, Hughes HE, Clarke A. Twenty-four cases of the EEC syndrome: clinical presentation and management. J Med Genet 1995;32:716.

9. Krunic AL, Vesic SA, Goldner B, et al. Ectrodactyly, softtissue syndactyly and nodulocystic acne: coincidence or association? Pediatr Dermatol 1997;14:31.

10. Trope BM, Salomão JN, Costa VDT, Villa Verde RB, Barros DS. Do you know this syndrome? An Bras Dermatol 2010;85:573-575.

11. León-Mateosa A, Monteagudo B, Rodríguez L, Suárez I y Zulaica A. Paciente con manos y pies en tenaza de langosta: síndrome ectrodactilia-displasia ectodérmica-fisura facial. Actas Dermosifiliogr 2008;99:820-830.

12. Gershoni-Baruch R, Goldsher D, Hochberg Z. Ectrodactylyectodermal dysplasia-clefting syndrome and hypothalamopituitary insufficiency. Am J Med Genet 1997;68:168.

13. Maas SM, de Jong TP, Buss P, et al. EEC syndrome and genitourinary anomalies: an update. Am J Med Genet 1996;63:472.

14. Leiter E, Lipson J. Genitourinary tract anomalies in lobster claw syndrome. J Urol 1976;115:339.

15. Halal F, Homsy M, Perreault G. Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. Am J Med Genet 1984;17:753. 495 González-Ballano I y col. Ectrodactilia

16. Herreros MB, Atobe O, Rodríguez S. Diagnóstico prenatal de ectrodactilia, por ecografía, en dos hermanos. Mem inst investig Cienc Salud 2005;3(1).

17. Clements SE, Techanukul T, Coman D, Mellerio JE, McGrath JA. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNAbindingdomain of the TP63 gene and genotype–phenotype correlation. British Journal of Dermatology 2010;162:201- 207.

18. Rypens F, Dubois J, Garel L, Fournet JC, Michaud JL, Grignon A. Obstetric US: Watch the Fetal. RadioGraphics 2006;26:811-832.