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April 1977

Abnormal Genitalia as a Presenting Sign in Two Male Infants With Hydantoin Embryopathy Syndrome

Author Affiliations

From the Genetic and Endocrine Unit, Department of Pediatrics, State University of New York, Upstate Medical Center, Syracuse, NY. Dr Pinto is now with the Department of Medical Genetics, State University of Campinas, Campinas, Brazil.

Am J Dis Child. 1977;131(4):452-455. doi:10.1001/archpedi.1977.02120170078016

• Abnormal genitalia was a salient clinical finding in two unrelated male infants with the hydantoin embryopathy syndrome. Both infants also exhibited hypoplastic nails of fingers and toes, hypertelorism, and a flat nasal bridge, and one had severe developmental retardation. We review previously reported cases of the hydantoin embryopathy syndrome and discuss factors possibly affecting the teratogenicity of phenytoin. Male infants with findings such as the patients of this report need to be differentiated from patients with Noonan syndrome and Aarskog syndrome. We suggest that mothers receiving phenytoin who have given birth to one affected infant should be given a different anticonvulsant for future pregnancies.

(Am J Dis Child 131:452-455, 1977)

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