title: Further delineation of the DOOR syndrome.
abstract: Two related sibships from an extended family have been observed with the features of the DOOR syndrome. These features included deafness, onychodystrophy, osteodystrophy, microcephaly, and global developmental retardation with progressive blindness. Seizures, which were associated with hypsarrhythmia, were frequent and difficult to control and ultimately were the cause of death in two patients. An MRI brain scan of case 1 showed a number of abnormalities including markedly reduced myelination. The urine organic acid analysis showed a ten-fold increase of 2-oxoglutarate. In one patient the placenta was noted to have multiple fluid filled cysts, which is a feature reported in other metabolic diseases. It is suggested that there may be genetic heterogeneity in the syndrome, and the presence of increased 2-oxoglutarate is associated with a more severe phenotype which is frequently lethal.
authors.affiliation: Department of Pediatrics, Royal Hospital, Muscat, Sultanate of Oman.
authors.forename: A
authors.initials: A
authors.lastname: Rajab
authors.forename: A
authors.initials: A
authors.lastname: Riaz
authors.forename: G
authors.initials: G
authors.lastname: Paul
authors.forename: S
authors.initials: S
authors.lastname: Al-Khusaibi
authors.forename: R
authors.initials: R
authors.lastname: Chalmers
authors.forename: M A
authors.initials: MA
authors.lastname: Patton
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification* / Q000473:pathology; D001847:Bone Diseases / Q000473:pathology*; D003638:Deafness / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D009264:Nails, Malformed; D009679:Nuclear Family; D010375:Pedigree; D013577:Syndrome