Several studies have been published on congenital diaphragmatic hernia (CDH), either as an isolated defect or as part of a multiple congenital anomaly (MCA) pattern. Here we present an epidemiological study designed to measure the association between CDH and a group of 17 selected congenital anomali
Epidemiological analysis of the association of congenital diaphragmatic hernia with upper-limb deficiencies: A primary polytopic developmental field defect
✍ Scribed by Martínez-Frías, María-Luisa
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 17 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19960301)62:1<68::aid-ajmg14>3.0.co;2-t
No coin nor oath required. For personal study only.
✦ Synopsis
McCredie and Reid [(1978): J Pediatr 92: 76!2-7651 described an association of diaphragmatic hernia and upper limb deficiencies. Lerone et al. [(1992): Am J Med Genet 445427-8291 recently described a new case with this combination. We present an epidemiological study using two analytic methods with data from the Spanish Collaborative Study of Congenital Malformations (ECEMC). The results support the suggestion that the concurrence of these two congenital anomalies constitutes a polytopic primary developmental field defect.
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Previously we proposed that the VACTERL association represents a dysmorphogenetic response of the primary developmental field, i.e., polytopic developmental field defects (DFD). As such, it should conform to the essential attributes of a DFD, namely, heterogeneity, homology, and phylogeneity. To stu
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Table ), using the proposed definitions (Table ). This proposed classification was tested on examples provided by several of the registries of congenital anomalies participating in the study of limb deficiencies. All examples fit well into the proposed classification.