Limb defects associated with major congenital anomalies: Clinical and epidemiological study from the international clearinghouse for birth defects monitoring systems

Aldo Rosano, Lorenzo D. Botto, Richard S. Olney, Muin J. Khoury, Annukka Ritvanen, Janine Goujard, Claude Stoll, Guido Cocchi, Paul Merlob, Osvaldo Mutchinick, Martina C. Cornel, Eduardo E. Castilla, María Luisa Martínez-Frías, Giuseppe Zampino, J. David Erickson, Pierpaolo Mastroiacovo*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring. We pooled data from 11 birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring Systems. We identified 666 infants, born from 1983 through 1993, who had a nonosyndromal limb defect plus at least one other major malformation (rate 12.9/100,000 population). We used observed/expected ratios and log-linear models to detect association patterns. We found that specific limb defects occurred with relatively distinct sets of malformations. Preaxial limb defects occurred more frequently with microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeleton defects; postaxial defects with hypospadias; transverse defects with craniofacial defects, micrognathia, ring constrictions, and muscular defects; intercalary defects with omphalocele; split hand/foot with encephalocele; and amelia with anorectal atresia, omphalocele, severe gertitalia defects, unilateral kidney dysgenesis, gastroschisis, and ring constriction. Log-linear modeling identified higher order associations among some of these same malformations. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)110-116
Number of pages7
JournalAmerican Journal of Medical Genetics
Issue number2
Publication statusPublished - 17 Jul 2000
Externally publishedYes

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