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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
Summary
This study details a patient with DOOR syndrome, characterized by deafness, nail and bone abnormalities, and intellectual disability. A key finding is the frequent presence of specific fingerprint patterns in individuals with this rare genetic disorder.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- DOOR syndrome (deafness, onycho-osteodystrophy, mental retardation) is a rare genetic disorder.
- Understanding the phenotypic spectrum and diagnostic markers is crucial for early identification and management.
Observation:
- A case of DOOR syndrome is presented, highlighting the typical clinical features.
- Dermatoglyphic analysis was performed as part of the patient's evaluation.
Findings:
- Abnormal dermatoglyphics, specifically multiple arches on fingertips, were observed.
- This dermatoglyphic pattern appears to be a frequent feature in DOOR syndrome patients.
Implications:
- Abnormal dermatoglyphics may serve as a potential diagnostic marker for DOOR syndrome.
- Further research into dermatoglyphic patterns could aid in the diagnosis and understanding of DOOR syndrome.
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