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January 1989

Ectrodactyly, Ectodermal Dysplasia, and Clefting Associated With Thymic Aplasia

Author Affiliations

Mount Sinai School of Medicine City Hospital at Elmhurst 79-01 Broadway Elmhurst, NY 11373

Am J Dis Child. 1989;143(1):12. doi:10.1001/archpedi.1989.02150130022005

Sir.—A premature infant was born with ectrodactyly, ectodermal dysplasia, and clefting (EEC) syndrome associated with thymic aplasia, which, to our knowledge, has not been previously reported.

Patient Report.—Our patient, a female infant, was the product of nonconsanguineous parents. The mother had a negative VDRL test result at the 20th week of gestation but a positive (1:128) VDRL test result at the 29th week of gestation. She was treated with penicillin G benzathine (Bicillin) (2.4 million U); she went into premature labor two days later and delivered a 1490-g female infant.

The following abnormalities were noted in the infant: bilateral complete cleft lip and palate with an intermaxillary mass; severely distorted nose and micrognathia; alopecia totalis, with absence of eyebrows and eyelashes; telecanthus with a conjunctival membrane on the right side; and large, floppy, posteriorly rotated ears. The skin showed diffuse vesiculobullous eruptions on the entire body surface, including

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