The Cornelia de Lange or Brachman-de Lange syndrome is characterized by significant cutaneous and external manifestations, including hirsutism, cutis marmorata, and a bluish discoloration of the facial skin. The facies is ordinarily typical and readily recognized. Epidermal ridge patterns are often hypoplastic. In addition growth failure, skeletal abnormalities, mental retardation, and abnormal cry are present. The cry is so characteristic that it may be recognized without seeing the patient. Early death usually occurs in these patients.
SCHUSTER DS, JOHNSON SAM. Cutaneous Manifestations of the Cornelia de Lange Syndrome. Arch Dermatol. 1966;93(6):702–707. doi:10.1001/archderm.1966.01600240068011
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