Facial anomalies in a patient with cytochrome-oxidase deficiency and subsequent Kearns-Sayre syndrome with growth hormone deficiency.
The authors report on a patient with mild cranio-facial abnormalities observed at birth and growth hormone deficiency, which later developed a typical Kearns-Sayre syndrome. Facial abnormalities are similar to those reported in the fetal alcohol syndrome (a typical neural crest syndrome). In the authors' opinion, they could be an abnormality of neural crest cell development or migration, due to expression of antenatal oxidative phosphorylation deficiency in neural crest cells or to an interference of defective oxidative phosphorylation with neural crest cells signal(s). On this ground, the Kearns-Sayre syndrome can be considered a neurocristopathy and the studies on this syndrome should take into account those diseases commonly associated with neurocristopathies (i.e. facial, endocrine, osseous, cardiovascular and of peripheral nerve system).
Berio
A
A
Department of Pediatrics, DIPE, University of Genoa, Genoa, Italy. luigimassone@ospedale-gaslini.it
Piazzi
A
A
D002648:Child; D002675:Child, Preschool; D030401:Cytochrome-c Oxidase Deficiency / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D019066:Facies; D005260:Female; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000209:etiology*; D008437:Maxilla / Q000002:abnormalities*
D013006:Growth Hormone