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.
Verloes
Alain
A
Clinical Genetic Unit, Robert Debré Hospital and INSERM E9935, Paris, France Cardiology Neurology, University Dept of Pediatrics, Hôpital de la Citadelle, Liège, Belgium.
Massin
Martial
M
Fransolet
Anne-Catherine
AC
Misson
Jean-Paul
JP
D002675:Child, Preschool; D002658:Developmental Disabilities / Q000503:physiopathology*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000503:physiopathology*; D006228:Hand Deformities, Congenital / Q000503:physiopathology; D006801:Humans; D006983:Hypertrichosis / Q000503:physiopathology*; D007223:Infant; D007231:Infant, Newborn; D013771:Tetralogy of Fallot / Q000503:physiopathology*