Autosomal recessive acro‐fronto‐facio‐nasal dysostosis associated with genitourinary anomalies

Abstract

We report a 6‐month‐old boy, born of consanguineous (first‐cousin) parents (F = 1/16) presenting microbrachycephaly, wide forehead, marked hypertelorism, broad nose with a midline groove with a bilateral small “blind dimple” in each side, hypospadias, syndactyly between fingers 3 and 4, broad thumbs, and halluces. This association of anomalies suggests the diagnosis of a “new” type of acrofronto‐facio‐nasal dysostosis. Normal chromosomes, parental consanguinity, and familial occurrence suggest autosomal recessive inheritance.