Introduction

This chapter deals with a variety of unrelated conditions that have not been described in detail elsewhere. These disorders have been grouped into the following categories: connective tissue, skeletal, dermatologic, muscular, chromosomal/developmental, and immunologic, with an overview of the range of anomalies that may be present.

As detailed medical histories are often not available at the time of non-hospital autopsies, it is worthwhile considering certain routine steps in individuals who appear dysmorphic, as these may be necessary if an accurate diagnosis is to be established. These include the taking of detailed external and internal photographs for later review by a medical geneticist if required, sterile skin and fresh tissues sampling for cytogenetic and molecular studies, vitreous humor for biochemical and metabolic analyses, and the brain and spinal cord for detailed neuropathological examination.

When genetic mutations were first being identified for many of these heritable conditions it was hoped that this would help to identify specific disorders and that correlating genotype with phenotype would render great assistance in predicting individual prognosis and possible manifestations in family members. The autopsy with subsequent molecular investigations seemed destined to have a crucial place in directing genetic counseling. Unfortunately a problem that has arisen is that many of these conditions involve numerous mutations in large or multiple genes; in addition families may have unique mutations of completely uncertain significance.