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[Type I tricho-rhino-phalangeal syndrome]
Tijdschrift Voor Kindergeneeskunde
|April 1, 1985
Summary
Tricho-Rhino-Phalangeal syndrome type I (TRPS I) affects mothers and sons, presenting with distinctive hair, facial, and digital anomalies. This study details the clinical and radiographic features of a mother-son pair diagnosed with TRPS I.
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.