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[Etiologic distribution of children with congenital defects].

作者信息

Martínez Frías M L, Rodríguez Pinilla E, Bermejo Sánchez E, Urioste Azcorra M, Villa Milla A, Lorda Sánchez I, Frías J L

机构信息

ECEMC Dpto. de Farmacología, Facultad de Medicina, Universidad Complutense de Madrid.

出版信息

An Esp Pediatr. 1996 Dec;45(6):635-8.

PMID:9133231
Abstract

INTRODUCTION

Although it has been generally admitted that we know the cause of congenital malformations in about 40% of the cases, these data are based on very few studies.

PATIENTS AND METHODS

Here we present the distribution of 22,784 malformed infants in our country by type of cause of their defects.

RESULTS

Our results show a great impact of chromosomal alterations in causing congenital anomalies. On the other hand, performing the chromosomal study will enable the diagnosis of genetic entities, as well as environmental ones that are clinically similar to the clinical patterns produced by chromosomal abnormalities.

CONCLUSIONS

We can recognize the cause of congenital defects in a proportion higher than the 40% which is generally accepted. Nowadays, there is no reason that justifies not performing a chromosomal study with high resolution band techniques in infants with congenital defects.

摘要

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