Characterization of the clinical and behavioral phenotype of the tricho-rhino-phalangeal syndrome type I. A case report

Abstract

Klingmuller made the first description of two brothers with this dysmorphic pattern in 1956 and it was Giedion who, a decade later, used the name tricho-rhino-phalangeal for this syndrome. Phenotypically, three types are described with different clinical gradations. Type I or Giedion syndrome is the one that shows the highest incidence worldwide, has a lower severity in the clinical phenotype. It is transmitted with an autosomal dominant inheritance pattern. The case of a 10-year-old patient is reported. The patient had a dysmorphic pattern and typical radiological findings that led to the clinical diagnosis of this syndrome. A detailed delineation of the clinical and behavioral phenotype of the patient is conducted, as well as the differential diagnosis with other genetic syndromes with a similar dysmorphic pattern.