Children with the tricho-rhino-phalangeal syndrome need to be referred to a specialised centre for diagnosis and genetic counselling. This is a typical example where the personal and familial anamneses are highly important, since it is an autosomal dominant disease. Patients' karyotype may result normal because frequently the loss of genetic material (in this case on the long arm of chromosome 8) is not cytogenetically detectable. Sometimes, the fact that a youth has the same peculiar somatic traits as one of his parents is reassuring, but in some cases it may strengthen the suspicion of a hereditary disorder. Finally, it should not be forgotten that apparently disparate symptoms and signs often have a common cause.
|Translated title of the contribution||The trichorhinophalangeal syndrome: Diagnosis and counselling|
|Number of pages||3|
|Journal||Occhio Clinico Pediatria|
|Publication status||Published - 2002|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health