
congenital heart disease, deaf-mutism and associated somatic malformations
occurring in several members of one family
m.d. and patrick h. lehan, m.d.
a unique family is described in which the
mother and four of her eight children have pulmonary
stenosis.  two of the four affected children
are deaf-mutes; one of these has, in addition
to the pulmonary valvular stenosis, idiopathic
hypertrophic subaortic stenosis.  all the affected
children had several associated somatic malformations.
genetic and nongenetic factors and
their role in the development of the malformations
are discussed.  it is suggested that the cardiac
defect is transmitted by a single non-sex-linked
genetic factor (dominant autosomal
inheritance).  in the presence of a normal karyotype
it appears that a single dose of either a
point mutation, or a small deletion or translocation
is the most likely cause.
