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DOOR syndrome: additional case and literature review
C J Bos1, P F Ippel, F A Beemer
1Clinical Genetics Center Utrecht, The Netherlands.
Clinical Dysmorphology
|January 1, 1994
Abstract:
We report on a patient with sensorineural deafness, onycho- and osteodystrophy and mental retardation (DOOR syndrome) and review the literature. It appears that abnormal dermatoglyphics are a frequent feature of the DOOR syndrome, as all patients with DOOR syndrome in whom dermatoglyphic investigations were done, had multiple arches on their fingertips.
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