PEDIATRICS Vol. 32 No. 4 October 1963, pp. 540-548
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CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE

Howard Setleis M.D.1, Benjamin Kramer M.D.1, Marta Valcarcel M.D.1, and Arnold H. Einhorn M.D.1

1 Department of Pediatrics, Maimonides Hospital of Brooklyn and Kings County Hospital, and State University of New York, the Lincoln Hospital and the Albert Einstein College of Medicine

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.

Accepted on May 9, 1963