The tricho-rhino-phalangeal syndromes I and II.

Abstract

The tricho-rhino-phalangeal syndromes (I and II) are conditions presenting with distinctive facial features and digital abnormalities. In addition, the type II syndrome (Langer-Giedion syndrome or the trichorhino-phalagcal syndrome with exostoses, TRPSE) presents with multiple cxostoses, short stature and mental handicap. The two types of the syndrome and the autosomal dominant condition of hereditary multiple cxostoscs appear to be contiguous gene syndromes on chromosome 8. Deletions of chromosome 8 have becn rcportcd in 50% of patients with TRP-II and at least two patients with the type I syndrome. We rcport two unrelated patients with these disorders, both with normal chromosomes, to compare and highlight their clinical features. The tricho-rhino-phalangeal syndrome type 1 is a relatively mild disorder with chiefly cosmetic implications, whereas the type II syndrome presents a more severe picture with many additional features? Deletion of chromosome 8 q may be responsible for the features at least in some cases. The situation is similar to other conditions like the Prader Willi and Angelman syndromes where only somc patients with the disorder have detectable chromosomal abnormality? There are no reports of this condition in Indian literature and we would therefore like to present these two classical cases for their interesting clinical features and to draw attention to the need for chromosomal analysis in such cases.