A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
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DOI：
10.1097/01.mcd.0000220603.09661.7e
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发表时间：
2006-07-01
影响因子：
0.7
通讯作者：
Tabith, Alfredo Junior
中科院分区：
文献类型：
--
作者：
Guion-Almeida, Maria Leine;Zechi-Ceide, Roseli Maria;Tabith, Alfredo Junior
我们报告了两个新的巴西病例，并回顾了两个以前报道的患者的特征组合的迹象，包括下颌骨面骨发育不全，临床建议三角头畸形，小头畸形，不寻常的耳朵与皮肤标签，腭裂。这些患者的随访显示生长和智力迟钝，以及严重的语言和言语延迟。对文献和数据库程序的回顾没有发现任何与这些发现相匹配的综合征。我们认为这种综合征是一种新的下颌骨面骨发育不全综合征，其病因尚不清楚。
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.