Limb deficiencies in infants with trisomy 13

Citation
Ml. Martinez-frias et al., Limb deficiencies in infants with trisomy 13, AM J MED G, 93(4), 2000, pp. 339-341
Citations number
20
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
0148-7299 → ACNP
Volume
93
Issue
4
Year of publication
2000
Pages
339 - 341
Database
ISI
SICI code
0148-7299(20000814)93:4<339:LDIIWT>2.0.ZU;2-0
Abstract
In 1994, we published a case with trisomy 13 who presented with ectrodactyl y [Urioste et al., 1994: Am J Med Genet 53:390-392], Recently, Kuschel and Gillessen-Kaesbach [2000: Am J Med Genet 90:87-88] presented an infant with trisomy 13 who also had oligodactyly, and they considered their case as th e second published with oligodactyly. Here, we present three cases with any type of limb deficiencies who, together with the one that was published pr eviously [Urioste et al,, 1994], correspond to the total of 75 cases with t risomy 13 identified in the Spanish Collaborative Study of Congenital Malfo rmations (ECEMC), This gives us a minimum frequency of 5.33% (CI:1.45-13.65 ) for trisomy 13 cases having limb deficiencies whereas these defects have a frequency of 5.51 per 10,000 births in our population. Consequently, we t hink that limb deficiencies could be considered as one of the defects that constitute the spectrum of anomalies observed in infants with trisomy 13, ( C) 2000 Wiley-Liss, Inc.