multiple malformation syndromes

multiple malformation syndromes

Pediatrics A group of disorders defined by developmental anomalies of 2 or more systems, possibly related to chromosomal damage, teratogens and environmental influences–eg, Cornelia de Lange syndrome, Prader-Willi syndrome, Rubinstein-Taybi syndrome, Williams' syndrome. See Dysmorphology, Sequence.
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There are other causes of syndactyly in people; in fact, in more than 90 multiple malformation syndromes syndactyly is present [1,10].
It is interesting to note that in human medicine syndactyly appears in numerous multiple malformation syndromes, some with renal impairment [10].
Bernstein (47,48) acknowledged, however, that not all dysplastic kidneys are associated with obstruction because the many familial multiple malformation syndromes argue for a genetic etiology.
The diverse entities characterized by the metanephric dysgenesis and LUT abnormalities of CAKUT are clustered together into the second category that accommodates their occurrence in sporadic, syndromic, and multiple malformation syndromes, while allowing for combinations of renal and LUT defects that can affect the same kidney.
Evidence for this heterogeneity is suggested by the occasional occurrence of this complex in chromosomal and other multiple malformation syndromes.

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