title: 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 albinism and a right-sided congenital diaphragmatic hernia.
authors.affiliation: Department of Cardiothoracic Surgery and ECMO, Glenfield Hospital, LE3 9QP Leicester, UK.
authors.forename: Nageena
authors.initials: N
authors.lastname: Hussain
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Dawrant
authors.forename: Richard K
authors.initials: RK
authors.lastname: Firmin
mesh_terms: 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
chemical_list: D026901:Membrane Transport Proteins; C489600:OCA2 protein, human