Page last updated: 2024-10-31

apnea and Cutis Laxa

apnea has been researched along with Cutis Laxa in 1 studies

Apnea: A transient absence of spontaneous respiration.

Cutis Laxa: A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed)

Research Excerpts

ExcerptRelevanceReference
" Early-onset problems include excessive hiccups, hypotonia, hypersomnolence, hypothermia, feeding difficulties, recurrent apneas, epileptic seizures, and abnormal nonepileptic movements."4.02Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa. ( Ciaccio, C; Cinquina, V; Colombi, M; Masson, R; Ritelli, M; Venturini, M, 2021)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's1 (100.00)2.80

Authors

AuthorsStudies
Cinquina, V1
Ciaccio, C1
Venturini, M1
Masson, R1
Ritelli, M1
Colombi, M1

Other Studies

1 other study available for apnea and Cutis Laxa

ArticleYear
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
    Molecular genetics & genomic medicine, 2021, Volume: 9, Issue:1

    Topics: Apnea; Child, Preschool; Cutis Laxa; Developmental Disabilities; Diagnosis, Differential; DNA-Bindin

2021
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