Ra. Frank et Pj. Frosch, ADAMS-OLIVER SYNDROME - CUTIS MARMORATA TELEANGIECTATICA CONGENITA WITH MULTIPLE ANOMALIES, Dermatology, 187(3), 1993, pp. 205-208
A 1-year-old female with the following multiple congenital anomalies i
s described: large vascular plaques on the scalp with atrophy and ulce
rations, cutis marmorata and dilated veins on the trunk and extremitie
s, short toes with partially missing phalanges and nails, retro- and m
icrognathia, strabismus convergens and atrial septal defect. These ano
malies are characteristic of the Adams-Oliver syndrome, a rare autosom
al dominant neuroectodermal syndrome which may be a maximal variant of
van Lohuizen's syndrome (cutis marmorata teleangiectatica congenita).