Six cases of the uncommon congenital Cornelia de Lange syndrome have been studied to emphasize and clarify the dermatological manifestations. The Cornelia de Lange syndrome comprises severe mental and growth retardation combined with variable degrees of multiple ectodermal anomalies. The dermatological features consistently present in this series of cases are: generalized hypertrichosis, generalized cutis marmorata, and a group of facial characteristics which collectively create a unique and distinct physiognomy. A recent increase of reported cases strengthens the suspicion that an appreciable number of undiagnosed patients with this syndrome are presently institutionalized.
SALAZAR FN. Dermatological Manifestations of the Cornelia de Lange Syndrome. Arch Dermatol. 1966;94(1):38–43. doi:10.1001/archderm.1966.01600250044007
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