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M L Frias

Publications and source records attributed to M L Frias.

2 recordsLinked to original sources

Descriptive system for congenital limb anomalies.

A descriptive system for the nomenclature, notation and classification of congenital limb malformations, suitable for clinical, epidemiological and experimental use is presented. Every developmental limb anomaly is described by stating the type of anomaly and the affected anatomic structure. All anomalies are classified into three basic types: excess, deficiency and fusion. The anatomic structure of the affected limb is defined within a two dimensional order. This system was used to describe 652 cases with isolated developmental limb anomalies obtained from two series of observations. The observed data are presented in a progressively expanded classification ranging from 4 to 497 diagnostic categories. Observed incidence rates for the four main types of anomaly from a sample of 297,299 consecutive livebirths, are: excess: 1.22; deficiency: 0.17; fusion: 0.20; combined: 0.24 per thousand.

Adolescent↗

Patterns of combined limb malformations.

Seven different limb malformations types were defined in 544 affected newborns, apparently free from other anomalies, obtained from a series of 297,299 livebirths. These seven malformation types were: polydactyly, limb reduction, brachydactyly, symphalangy, syndactyly and split hand/foot. One anomaly type was present in 472 newborns (1.58/1,000) and two or three in 72 (0.24/1,000). The observed combinations of two or three limb malformation types cannot be explained as chance association. Therefore, a common etiopathogenic mechanism has to be considered when two or more limb malformation types are combined in a given individual. The most frequent observed combinations were: reduction-brachydactyly, reduction-syndactyly, brachydactyly-syndactyly, polydactyly-syndactyly, and reduction-brachydactyly-syndactyly. Based on affected limb distribution, sex ratio, and familial recurrence rates, it is suggest that a reduction anomaly is the primary component in all tested combinations while syndactyly tends to be a secondary one when combined with any other limb anomaly type.

Abnormalities, Multiple↗