Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome?
We report on a girl with frontonasal "dysostosis," callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet. This pattern of the developmental defects suggests a severe form of the acrocallosal syndrome. Implications for genetic counselling are discussed.
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Servicio de Pediatria y Neonatologia, Hospital N.S. de la Misericordia, Cordoba, Argentina.
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D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging; D061085:Agenesis of Corpus Callosum; D003394:Craniofacial Dysostosis / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007685:Kidney Tubules, Collecting / Q000002:abnormalities*; D011859:Radiography; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities*; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging