Congenital Absence of the Abdominal Wall

Fletcher, William

doi:10.5694/j.1326-5377.1928.tb40936.x

Cited by 7 publications

(1 citation statement)

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“…Other genetic explanations, including autosomal recessive and polygenic inheritance, have nothing specifically in their favour. An autosomal recessive mutation could not explain affected cousins (Sladezyk, 1967;Garlinger and Ott, 1974) or discordant monozygous twins (Ives, 1974); in addition, consanguinity has been noted only once (Fletcher, 1928). Argument against a polygenic/ multifactorial basis relies more on pathophysiological grounds than on family data: congenital anomalies on that basis are ordinarily limited to a single organ or tissue in terms of primary involvement.…”

Section: Discussionmentioning

confidence: 99%

The prune belly anomaly: heterogeneity and superficial X-linkage mimicry.

Riccardi¹,

Grum²

1977

Journal of Medical Genetics

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SUMMARY The genetic, clinical, and necropsy findings of 2 brothers with the prune belly anomaly are presented and the literature reviewed. The combined data emphasise the clinical and genetic heterogeneity of the disorder and show that in at least some instances a heritable component may be the primary insult. The most likely heritable explanation involves a two-step autosomal dominant mutation with sex-limited expression that partially mimics X-linkage.The triad of deficient abdominal musculature, urinary tract and renal anomalies, and cryptorchidism has been recognised for many years (

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Section: Discussionmentioning

confidence: 99%