TRICHO-RHINO-PHALANGEAL (TRP) SYNDROME: VARYING EX- PRESSIVITY AND PROGRESSION OF SKELETAL ABNORMALITIES

Abstract

TRP syndrome includes pear-shaped nose; thin, slowly-growing hair and clinobrachydactyly with cone-shaped epiphyses. Most reports have dealt either with few affected individuals within a family or with sporadic cases, thus limiting the recognition of the scope of manifestations of the syndrome and the definition of its mode of determination. This records the first pedigree involving multiple affected members in three generations. Fifty percent of individuals born to an affected parent had TRP syndrome, sex ratio was 1:1 and there was male to male transmission, confirming autosomal dominant inheritance. Evaluation of 21 affected individuals (ages newborn to 65 years) demonstrated variability in expression with most of the characteristic features present in 18 and lack of hair changes or facial abnormalities with minimal hand involvement and normal stature in the rest. Pattern profile of the hands helped corroborate the diagnosis in mildly affected patients. Older individuals showed progressive kyphoscoliosis, pectus carinatum and protrusio acetabulae. Epiphyseal changes other than coning, such as small size, fragmentation and aseptic necrosis, were observed in several individuals. A 34-year-old patient with aseptic necrosis of the femoral heads required bilateral hip prosthesis. Our observations emphasize the need to periodically evaluate the extent of skeletal involvement in affected individuals and to examine parents of presumably sporadic cases to detect minimal expressivity.

Log in or create a free account to read this content

Gain free access to this article, as well as selected content from this journal and more on nature.com

Access through your institution

or

Sign in or create an account

Continue with Google

Continue with ORCiD