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A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.
Clin Dysmorphol. 2006 Jul; 15(3):171-174.CD

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.

Authors+Show Affiliations

Clinical Genetics Phoniatry, Hospital de Reabilitac¸a˜o de Anomalias Craniofaciais, University of Sa˜o Paulo (USP), Bauru Divisa˜o de Educac¸a˜o e Reabilitac¸a˜o dos Distu´rbios da Comunicac¸a˜o, Pontifícia University of Sa˜o Paulo, SP, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16760738

Citation

Guion-Almeida, Maria Leine, et al. "A New Syndrome With Growth and Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, and Cleft Palate." Clinical Dysmorphology, vol. 15, no. 3, 2006, pp. 171-174.
Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, et al. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clin Dysmorphol. 2006;15(3):171-174.
Guion-Almeida, M. L., Zechi-Ceide, R. M., Vendramini, S., & Ju Nior, A. T. (2006). A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clinical Dysmorphology, 15(3), 171-174. https://doi.org/10.1097/01.mcd.0000220603.09661.7e
Guion-Almeida ML, et al. A New Syndrome With Growth and Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, and Cleft Palate. Clin Dysmorphol. 2006;15(3):171-174. PubMed PMID: 16760738.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. AU - Guion-Almeida,Maria Leine, AU - Zechi-Ceide,Roseli Maria, AU - Vendramini,Siulan, AU - Ju Nior,Alfredo Tabith, PY - 2006/6/9/pubmed PY - 2006/9/6/medline PY - 2006/6/9/entrez SP - 171 EP - 174 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 15 IS - 3 N2 - 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. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/16760738/A_new_syndrome_with_growth_and_mental_retardation_mandibulofacial_dysostosis_microcephaly_and_cleft_palate_ L2 - https://doi.org/10.1097/01.mcd.0000220603.09661.7e DB - PRIME DP - Unbound Medicine ER -