CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE
1963
Five children are described who have a previously undescribed collection of defects. The children are all of Puerto Rican ancestry. The features of their defects are: (1) an aged, leonine appearance; (2) absent eyelashes from either lid, or multiple rows of lashes on the upper lids with absence of those of the lower lids; (3) eyebrows which slant sharply upward and laterally; (4) scarlike defects on each temple erroneously attributed at first, to obstetrical forceps injury; (5) skin which is puckered around the eyes, as in an elderly person; (6) a scarlike median ridge of the chin; and (7) a nose and chin which seem rubbery when palpated. The temporal defects and abnormalities of the eyelashes are thought to be due to the multiple effects of a single gene. We suggest that this combination of cutaneous lesions limited to the face is probably the expression of an autosomal reccessive inheritance.
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