RT Journal
A1 JHAVERI M, BARNETT SH, GERTNER M, RHO Y, SEGEN JC
T1 ECtrodactyly, ectodermal dysplasia, and clefting associated with thymic aplasia
JF American Journal of Diseases of Children
JO American Journal of Diseases of Children
YR 1989
FD January 1
VO 143
IS 1
SP 12
OP 12
DO 10.1001/archpedi.1989.02150130022005
UL http://dx.doi.org/10.1001/archpedi.1989.02150130022005
AB 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