title: DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases.
abstract: We report the seventeenth case of the recessive form of the DOOR syndrome. The parents were Guatemalan and not known to be consanguineous. The patient had developmental delay, severe sensorineural deafness, and abnormal nails and phalanges in the hands and feet. Urinary 2-oxoglutarate excretion was normal. The patient was among a subset of DOOR syndrome patients without seizures in infancy. This observation may be useful in discussing the prognosis for newly identified cases.
authors.affiliation: Department of Pediatrics, Harbor-UCLA Medical Center, Torrance 90502.
authors.forename: H J
authors.initials: HJ
authors.lastname: Lin
authors.forename: E D
authors.initials: ED
authors.lastname: Kakkis
authors.forename: D J
authors.initials: DJ
authors.lastname: Eteson
authors.forename: R S
authors.initials: RS
authors.lastname: Lachman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007656:Ketoglutaric Acids / Q000652:urine; D011859:Radiography; D012640:Seizures / Q000235:genetics; D013577:Syndrome
chemical_list: D007656:Ketoglutaric Acids