TY  - JOUR
T1  - ECtrodactyly, ectodermal dysplasia, and clefting associated with thymic aplasia
AU  - JHAVERI M, BARNETT SH, GERTNER M, RHO Y, SEGEN JC
Y1  - 1989/01/01
N1  - 10.1001/archpedi.1989.02150130022005
JO  - American Journal of Diseases of Children
SP  - 12
EP  - 12
VL  - 143
IS  - 1
N2  - 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
SN  - 0002-922X
M3  - doi: 10.1001/archpedi.1989.02150130022005
UR  - http://dx.doi.org/10.1001/archpedi.1989.02150130022005
ER  -