Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks’ gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy. 1. Introduction Ectrodactyly or split hand and foot malformations (SHFMs) (OMIM 183600) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. The malformation can be isolated, typically inherited in an autosomal dominant pattern with variable expression, or as part of a syndrome, as in the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome (OMIM 225280), all showing variable expressivity and reduced penetrance. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius (TAR) syndrome, not commonly associated with ectrodactyly [1]. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, detected prenatally using ultrasonography, in a fetus affected by trisomy 10. 2. Clinical Report A
References
[1]
M. M. Kennelly and P. Moran, “A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound,” Prenatal Diagnosis, vol. 27, no. 8, pp. 730–737, 2007.
[2]
S. A. Farrell, A. Sue-Chue-Lam, M. Miskin, and Y. S. Fan, “Fetal nuchal oedema and antenatal diagnosis of trisomy 10,” Prenatal Diagnosis, vol. 14, no. 6, pp. 463–467, 1994.
[3]
P. Schw？rzler, G. Moscoso, J. P. Bernard, L. Hill, M. V. Senat, and Y. Ville, “Trisomy 10: first-trimester features on ultrasound, fetoscopy and postmortem of a case associated with increased nuchal translucency,” Ultrasound in Obstetrics and Gynecology, vol. 13, no. 1, pp. 67–70, 1999.
[4]
H. Knoblauch, D. Sommer, C. Zimmer, et al., “Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy,” Prenatal Diagnosis, vol. 19, pp. 379–382, 1999.
[5]
M. L. Brizot, R. Schultz, L. T. Patroni, L. M. Lopes, E. Armbruster-Moraes, and M. Zugaib, “Trisomy 10: ultrasound features and natural history after first trimester diagnosis,” Prenatal Diagnosis, vol. 21, no. 8, pp. 672–675, 2001.
[6]
K. Y. Leung, N. A. Mac Lachlan, and W. Sepulveda, “Prenatal diagnosis of ectrodactyly: the “lobsterclaw” anomaly,” Ultrasound in Obsteric and Gynecologia, vol. 6, pp. 443–446, 1995.
[7]
K. T. Ram, D. Goffman, J. Ilagan, and P. Dar, “First-trimester diagnosis of familial split-hand/split-foot malformation,” Journal of Ultrasound in Medicine, vol. 28, no. 10, pp. 1397–1400, 2009.
[8]
G. Simonazzi, S. Miccoli, N. Salfi, et al., “A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation,” Prenatal Diagnosis, vol. 32, no. 3, pp. 296–298, 2012.
[9]
B. S. Koo, S. J. Baek, M. R. Kim, W. D. Joo, and H. J. Yoo, “Prenatally diagnosed ectrodactyly at 16 weeks' gestation by 2- and 3-dimensional ultrasonography: a case report,” Fetal Diagnosis and Therapy, vol. 24, no. 3, pp. 161–164, 2008.
[10]
A. Muscatello, N. Mastrocola, M. Di Nicola, et al., “Correlation between 3D ultrasound appearance and postnatal findings in bilateral malformations of the fetal hands,” Fetal Diagnosis and Therapy, vol. 31, pp. 138–140, 2012.
[11]
X. J. de Mollerat, F. Gurrieri, C. T. Morgan et al., “A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24,” Human Molecular Genetics, vol. 12, no. 16, pp. 1959–1971, 2003.
[12]
B. I. Dimitrov, T. de Ravel, J. Van Driessche et al., “Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements,” Journal of Medical Genetics, vol. 47, no. 2, pp. 103–111, 2010.
[13]
J. M. D. Hahnemann, M. Nir, M. Friberg, U. Engel, and M. Bugge, “Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations,” American Journal of Medical Genetics, vol. 138, no. 2, pp. 150–154, 2005.
