Hypertrichosis, Fallot tetralogy, growth and developmental delay.
We report a female patient with a unique pattern of pre- and postnatal growth deficiency, tetralogy of Fallot, very long eyelashes (trichomegaly), progressive and generalized hypertrichosis lanuginosa, brain atrophy with epilepsy, and puffy hands and feet. This appears to be a "new" entity within the group of syndromal hypertrichoses, possibly pathogenetically related to, but clinically distinct from Ambras or Oliver-McFarlane syndromes.
Child, Preschool↗