A Case of Variant Turner Syndrome with Multiple Café-au-lait Spots / 대한피부과학회지
Korean Journal of Dermatology
; : 244-247, 2023.
Article
in En
| WPRIM
| ID: wpr-977204
Responsible library:
WPRO
ABSTRACT
The phenotypic variability of variant Turner syndrome is wide, ranging from characteristic clinical features to those that are hardly distinguishable from the general population. A 4-year-old girl presented with multiple brownish macules and patches on the trunk and upper extremities as well as axillary freckles. Exome sequencing and chromosomal microarray testing revealed a microdeletion at Xp22.33p22.11 leading to a diagnosis of Turner syndrome. Here we describe an unusual case of variant Turner syndrome with multiple café-au-lait spots.
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WPRIM
Language:
En
Journal:
Korean Journal of Dermatology
Year:
2023
Type:
Article