MALFORMATION SYNDROMES

C. I. Kaye; D. E. Fisher

MALFORMATION SYNDROMES

Research output: Contribution to journal › Article › peer-review

Abstract

Cutis laxa, or 'generalized elastolysis', is a systemic disorder of probable genetic etiology in which the skin hangs in loose folds about the head and trunk. Both autosomal dominant and autosomal recessive modes of inheritance have been implicated. On skin biopsy, elastic fibers are reduced in number and fragmented. Pulmonary emphysema is not uncommon; bladder and gut diverticulae are also seen. A case is reported of an infant with cutis laxa associated with skeletal anomalies, peculiar facies and genitourinary anomalies.

Original language	English (US)
Pages (from-to)	130-131
Number of pages	2
Journal	Birth Defects: Original Article Series
Volume	11
Issue number	2
State	Published - 1975
Externally published	Yes

ASJC Scopus subject areas

Developmental Biology
Genetics(clinical)

Cite this

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title = "MALFORMATION SYNDROMES",

abstract = "Cutis laxa, or 'generalized elastolysis', is a systemic disorder of probable genetic etiology in which the skin hangs in loose folds about the head and trunk. Both autosomal dominant and autosomal recessive modes of inheritance have been implicated. On skin biopsy, elastic fibers are reduced in number and fragmented. Pulmonary emphysema is not uncommon; bladder and gut diverticulae are also seen. A case is reported of an infant with cutis laxa associated with skeletal anomalies, peculiar facies and genitourinary anomalies.",

author = "Kaye, {C. I.} and Fisher, {D. E.}",

year = "1975",

language = "English (US)",

volume = "11",

pages = "130--131",

journal = "Birth Defects: Original Article Series",

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AU - Kaye, C. I.

AU - Fisher, D. E.

PY - 1975

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N2 - Cutis laxa, or 'generalized elastolysis', is a systemic disorder of probable genetic etiology in which the skin hangs in loose folds about the head and trunk. Both autosomal dominant and autosomal recessive modes of inheritance have been implicated. On skin biopsy, elastic fibers are reduced in number and fragmented. Pulmonary emphysema is not uncommon; bladder and gut diverticulae are also seen. A case is reported of an infant with cutis laxa associated with skeletal anomalies, peculiar facies and genitourinary anomalies.

AB - Cutis laxa, or 'generalized elastolysis', is a systemic disorder of probable genetic etiology in which the skin hangs in loose folds about the head and trunk. Both autosomal dominant and autosomal recessive modes of inheritance have been implicated. On skin biopsy, elastic fibers are reduced in number and fragmented. Pulmonary emphysema is not uncommon; bladder and gut diverticulae are also seen. A case is reported of an infant with cutis laxa associated with skeletal anomalies, peculiar facies and genitourinary anomalies.

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AN - SCOPUS:0016763605

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ER -

MALFORMATION SYNDROMES

Abstract

ASJC Scopus subject areas

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