Richieri-Costa A, Montagnoli L, Kamiya T Y
Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Labio-Palatais, USP, Bauru, Brazil.
Am J Med Genet. 1989 May;33(1):121-4. doi: 10.1002/ajmg.1320330118.
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.
