A unique case of a congenital diaphragmatic hernia in a boy with albinism.
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.
Hussain
Nageena
N
Department of Cardiothoracic Surgery and ECMO, Glenfield Hospital, LE3 9QP Leicester, UK.
Dawrant
Michael J
MJ
Firmin
Richard K
RK
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D044466:Asian People / Q000706:statistics & numerical data; D015897:Comorbidity; D003241:Consanguinity; D007839:Functional Laterality; D006548:Hernia, Diaphragmatic / Q000175:diagnosis / Q000453:epidemiology*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D015995:Prevalence
D026901:Membrane Transport Proteins; C489600:OCA2 protein, human