Phenotypic information that should be collected include detailed
obstetrical, medical, and family histories; a comprehensive physical
examination; and ancillary laboratory, physiologic, or imaging studies.
The gestational and birth history needs to include exposures to
over-the-counter and prescription medications as well as illicit
drugs, frequency and vigor of fetal movements, intrauterine positioning,
quantity and quality of amniotic fluid, maternal medical history,
and the results of all prenatal testing. Documentation of at least
a three-generation pedigree is also recommended. The pedigree should
include information about the occurrence of sudden deaths, unexpected
deaths, or early deaths (ie, deaths at younger than age 55); individuals
with developmental disabilities, unusual behavioral profiles, and/or
mental retardation; individuals with birth defects; degree of relatedness
of parents (ie, level of consanguinity); and the ethnic background
of the family. Examination of photographs of the parents taken when
they were children, of siblings, and of extended family members
is especially useful when attempting to determine whether a particular
physical characteristic is a diagnostic clue, part of the phenotypic
background of the family, or both (ie, when a parent or relative
is unknowingly affected as well).