A unique case of a congenital diaphragmatic hernia in a boy with albinism

Abstract Congenital diaphragmatic hernia and oculocutaneous albinism are both rare birth defects that can be diagnosed in the newborn period. However, they have not been previously reported to have occurred together. This report describes a unique case of a male Asian baby with oculocutaneous albini...

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Bibliographic Details
Published in:Journal of pediatric surgery 2009-12, Vol.44 (12), p.e21-e22
Main Authors: Hussain, Nageena, Dawrant, Michael J, Firmin, Richard K
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - epidemiology
Abnormalities, Multiple - genetics
Albinism, Oculocutaneous - diagnosis
Albinism, Oculocutaneous - epidemiology
Albinism, Oculocutaneous - genetics
Asian Continental Ancestry Group - statistics & numerical data
Comorbidity
Congenital diaphragmatic hernia
Consanguinity
Functional Laterality
Hernia, Diaphragmatic - diagnosis
Hernia, Diaphragmatic - epidemiology
Hernias, Diaphragmatic, Congenital
Humans
Hypopigmentation - genetics
Infant, Newborn
Male
Membrane Transport Proteins - genetics
Oculocutaneous albinism
Pediatrics
Prevalence
Surgery
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Summary:Abstract Congenital diaphragmatic hernia and oculocutaneous albinism are both rare birth defects that can be diagnosed in the newborn period. However, they have not been previously reported to have occurred together. This report describes a unique case of a male Asian baby with oculocutaneous albinism and a right-sided congenital diaphragmatic hernia.
ISSN:0022-3468
1531-5037
DOI:10.1016/j.jpedsurg.2009.09.028