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Clin Dysmorphol. 2006 Jul;15(3):171-4.

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.

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Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, University of São Paulo (USP), SP, Bauru, Brazil.


We report on two new Brazilian cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate. Follow-up of these patients revealed growth and mental retardation, and severe language and speech delay. A review of the literature and database programs did not find any syndromes that matched this constellation of findings. We believe that this combination of signs represents a new mandibulofacial dysostosis syndrome whose etiology is unknown.

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