[Type I tricho-rhino-phalangeal syndrome]

Area of Science:

• Medical Genetics
• Skeletal Dysplasias

Background:

• Tricho-Rhino-Phalangeal syndrome type I (TRPS I) is a rare genetic disorder.
• TRPS I is characterized by a specific triad of symptoms affecting hair, facial features, and skeletal structure.

Observation:

• A mother and her two-year-old son diagnosed with TRPS I were evaluated.
• The mother presented with the complete TRPS I phenotype: fine, sparse, slow-growing hair, a pear-shaped nose, and digital abnormalities.
• Radiographic examination revealed cone-shaped epiphyses of the phalanges and shortening of the mesophalanges and first/fifth metacarpals.

Findings:

• The son exhibited most of the maternal symptoms, including hair and facial characteristics.
• Skeletal abnormalities in the son were noted, with extreme shortening of several phalanges and metacarpals.
• This case highlights familial inheritance patterns and phenotypic variability within TRPS I.

Implications:

• Understanding the clinical spectrum of TRPS I is crucial for accurate diagnosis and genetic counseling.
• Early identification of skeletal anomalies aids in managing potential orthopedic complications.
• Further research into the genetic basis and phenotypic expression of TRPS I can improve patient outcomes.