Deafness, onycho‐osteodystrophy, mental retardation (DOOR) syndrome

Abstract

We report two patients with sensorineural deafness, onycho-and osteodystrophy of fingers and toes, and mental retardation (DOOR syndrome). In addition, one patient, the only son of consanguineous parents, had seizures and hypoplasia of the optic nerves. The second patient, a male, was the only one affected in a sibship of three.

DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome in one of the twins after conception with intracytoplasmic sperm injection

“…Recently, van Bever et al [2007] investigated two functional candidate genes, OGDH (2-oxoglutarate dehydrogenase) and BMP4 (bone morphogenetic protein 4), and they excluded as diseasecausing genes. In the literature, nystagmus, blindness, optic atrophy, severe myopia and cataracts were reported among patients who developed early epilepsy [Nevin et al, 1982;Hess and Pecotte, 1984;Patton et al, 1987]. In our case, epilepsy did not develop during follow-up and no pathology was observed on ophthalmologic examination.…”

DOOR syndrome (deafness, onycho‐osteodystrophy, and mental retardation): A new patient and delineation of neurologic variability among recessive cases

“…Results of formal developmental or intelligence testing were reported in only 4 patients [Walbaum et al, 1970;Cantwell, 1975;Nevin et al, 1982; present case]. Therefore it was not possible to correlate developmental or intelligence quotients with other parts of the DOOR syndrome phenotype.…”

“…Our patient and 4 others exemplified a somewhat milder neurological phenotype in which seizures in the 1st few years of life did not occur. The 5 nonepileptic patients had been followed for 15, 11, 10, and 3% years [present case;Nevin et al, 1982;Feinmesser and Zelig, 1961;Walbaum et al, 19701 and into school age [Feinmesser and Zelig, 19611. The nonepileptic patient of Nevin et al [1982] had a left hemiparesis at age 2, but In contrast, 11 patients had convulsions beginning at approximately one year [Qazi and Smithwick, 1970;Cantwell, 1975;Sanchez et al, 1981;Nevin et al, 1982;Qazi and Nangia, 1984;Patton et al, 19871.…”

Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature

“…Family with anonychia and ectrodactyly described by Kumar and Levik[9] was characterized by relatively bizarre, asymmetric digital anomalies, including absence of one or more digits and hypoplasia of metacarpals and metatarsals, which distinguishes it from the reported case. In several genetic syndromes of congenital anonychia or onychodystrophy, other clinical features coexist such as hair and teeth anomalies,[10] eye defects,[11] deafness,[12] joint contractures,[13] mental retardation[14] ectrodactyly[15] and facial anomalies. [1617] Neither the family of Cooks et al .…”