Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies.
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.
Richieri-Costa
A
A
Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Labio-Palatais, USP, Bauru, Brazil.
Montagnoli
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L
Kamiya
T Y
TY
D003241:Consanguinity; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D013577:Syndrome; D014564:Urogenital Abnormalities