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Case Reports
. 2006 Jul;15(3):171-174.
doi: 10.1097/01.mcd.0000220603.09661.7e.

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

Maria Leine Guion-Almeida  1 , Roseli Maria Zechi-Ceide, Siulan Vendramini, Alfredo Tabith Ju Nior
Affiliations
Case Reports

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

Maria Leine Guion-Almeida et al. Clin Dysmorphol. 2006 Jul.

Abstract

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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References

    1. Gorlin RJ, Cohen MM Jr, Hennekam RCM 2001. Syndromes of the head and neck. 4th ed. New York: Oxford University Press.
    1. Guion-Almeida ML, Kokitsu-Nakata NM, Richieri-costa A 2000. Mental and growth retardation, microtrigonocephaly, cleft palate and preauricular skin tags: A variant of the C syndrome or a new autosomal recessive syndrome?. Braz J Dysmorphol Speech Hear Dis 3:25–29.

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