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A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate
Author(s) -
Lohi O.,
Kuusela A. L.,
Arola M.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0075-0
Subject(s) - hypospadias , medicine , human genetics , congenital disease , orthodontics , dentistry , pediatrics , surgery , biology , genetics , gene
Summary Pearson syndrome is a rare multiorgan mitochondrial disorder that causes substantial disability and usually leads to premature death. We describe an infant with Pearson syndrome who showed, in addition to the typical features of the syndrome, cleft lip and palate and hypospadias.