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  • Title: Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies.
    Author: Richieri-Costa A, Montagnoli L, Kamiya TY.
    Journal: Am J Med Genet; 1989 May; 33(1):121-4. PubMed ID: 2750779.
    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 acro-fronto-facio-nasal dysostosis. Normal chromosomes, parental consanguinity, and familial occurrence suggest autosomal recessive inheritance.
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