Abstract
The type 1 trichorhinophalangeal syndrome (TRPS1) is a rare autosomal dominant genetic disease and is also directly related to the mutation of the gene TRPS1 on chromosome 8q24. A 10-year-old female patient was referred to the Craniofacial Anomalies Rehabilitation Center presenting alopecia of the scalp, madarosis, eyelid ptosis, low implantation of the ears, and bulbous nose, which led to the diagnostic hypothesis of craniofacial dysplasia. Characteristics emerged during treatment that challenged the diagnosis. After karyotype analysis, TRPS1 was confirmed. Intraorally, supernumerary teeth, hyperplastic gums, and type 2 molar taurodontism were observed. Gingivectomy and extraction of 7 supernumerary teeth were performed. In addition to the aspect frequently found in TRPS1, new features such as cleft palate, absence of nasal cartilage, and telangiectasia on the epithelium introduced a new concept to the disease's phenotypic spectrum, increasing the chances of an early and correct diagnosis and treatment.
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