Trichorhinophalangeal syndrome type I - Clinical, microscopic, and molecular features.
Indian J Dermatol Venereol Leprol
;
2014 Jan-Feb; 80(1): 54-57
Article
in English
| IMSEAR
| ID: sea-154750
ABSTRACT
Trichorhinophalangeal syndrome type I (TRPS I) is an autosomal dominant malformation syndrome characterized by a triad of hair alteration, craniofacial and skeletal abnormalities. TRPS1 gene was first identified in 2000 and mapped on chromosome 8q23.3. A 39-year-old female patient with short stature (149 cm) visited for fine sparse and slow-growing hair with receded medio-occipital hairline of roughly triangular shape since infancy. A typical pear-shaped nose and elongated philtrum were noticeable. In addition, she reported deviation of middle phalanges, bilateral coxa varus in both hips and brachydactyly on bilateral fourth digits. Mutation analysis identified a transition of cytosine to thymine at position 1630 (exon 4), which results in amino acid change R544X and a premature stop of translation. There is no established treatment. But through careful evaluation of suspicious cases to identify potential mutation carriers, the patient can receive information about the disease and genetic counseling.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Transcription Factors
/
Abnormalities, Multiple
/
Female
/
Humans
/
Langer-Giedion Syndrome
/
Adult
/
Asian People
/
DNA-Binding Proteins
/
Genetic Counseling
Type of study:
Prognostic study
Language:
English
Journal:
Indian J Dermatol Venereol Leprol
Year:
2014
Type:
Article
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