Further delineation of the DOOR syndrome

Clinical Dysmorphology

Volumn 9, Issue 4, 2000, Pages 247-251

  Rajab, A ^a   Riaz, A ^a   Paul, G ^a   Al Khusaibi, S ^a   Chalmers, R ^a   Patton, M A ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Autosomal recessive inheritance; Developmental delay; DOOR syndrome; Microcephaly; Myelination defect; Oman; Onychodystrophy; Placental cysts; Seizures

Indexed keywords

2 OXOGLUTARIC ACID;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLINDNESS; BRAIN SCINTISCANNING; CASE REPORT; CLINICAL FEATURE; CONSANGUINITY; DISEASE ASSOCIATION; DISEASE COURSE; FEMALE; GENETIC DISORDER; GENETIC HETEROGENEITY; GROWTH RETARDATION; HEARING IMPAIRMENT; HUMAN; MALE; MICROCEPHALY; NAIL DYSTROPHY; NEWBORN; OMAN; OSTEODYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; SEIZURE;

EID: 0033798381     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200009040-00003     Document Type: Article

References (14)

1. Congenital sensori-neural deafness associated with Onycho-Osteo-Dystrophy and mental Retardation (D.O.O.R. Syndrome)
2. New syndrome: A digito-reno-cerebral syndrome
3. Congenital deafness associated with onychodystrophy
4. Hereditary congenital deafness with onychodystrophy
5. Additional case report of the DOOR syndrome
6. DOOR Syndrome (deafness, onycho-osteodystrophy and mental retardation): A new patient and delineation of neurologic variability among recessive cases
7. Hreditary sensorineural hearing loss associated with onychodystrophy and digital malformations
8. Deafness onycho-osteodystrophy, mental retardation (DOOR) syndrome
9. The DOOR syndrome (Deafness, Onycho-Osteodystrophy and Mental Retardation): Elevated plasma and urinary 2-oxoglutarate in three unrelated patients
10. Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: A new familial syndrome
11. Triphalangy of thumbs and great toes
12. The Deafness, Onycho-Osteo-Dystrophy Mental Retardation sydrome
13. Surdite familiale avec osteo-onycho-dysplasie
14. Eronen syndrome identical with DOOR syndrome