A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate.
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.
Lohi
O
O
Paediatric Research Centre, Tampere University Hospital, Tampere, Finland. olli.lohi@uta.fi
Kuusela
A L
AL
Arola
M
M
D000015:Abnormalities, Multiple / Q000235:genetics; D002971:Cleft Lip / Q000150:complications / Q000235:genetics*; D002972:Cleft Palate / Q000150:complications / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000378:metabolism; D017353:Gene Deletion; D006801:Humans; D007021:Hypospadias / Q000150:complications / Q000235:genetics*; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000150:complications / Q000235:genetics*; D011596:Psychomotor Disorders / Q000150:complications / Q000235:genetics; D013577:Syndrome
D004272:DNA, Mitochondrial