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

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...

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Veröffentlicht in:	American journal of medical genetics 1982-11, Vol.13 (3), p.325-332
Hauptverfasser:	Nevin, N. C., Thomas, P. S., Calvert, J., Reid, M. McC
Format:	Artikel
Sprache:	eng
Schlagworte:	autosomal dominant inheritance autosomal recessive inheritance Bone Diseases, Developmental - diagnostic imaging Bone Diseases, Developmental - genetics Child Child, Preschool Consanguinity Deafness - genetics DOOR syndrome Genes, Dominant Genes, Recessive genetic heterogeneity Humans Intellectual Disability - genetics Male mental retardation Nails, Malformed onychodystrophy osteodystrophy Radiography sensorineural deafness sporadic occurrence Syndrome
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Beschreibung
Zusammenfassung:	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.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320130316