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两名无亲缘关系的女性患者患有MCA/MR综合征，伴有严重的产前和产后生长发育迟缓、重度智力发育迟缓、具有独特面容，表现为鼻发育不全、腭裂和视网膜脉络膜缺损。

MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients.

作者信息

Fryns J P

机构信息

Center for Human Genetics, University of Leuven, Belgium.

出版信息

Genet Couns. 2000;11(4):399-402.

PMID:11140419
Abstract

We describe the clinical findings and natural history in two unrelated deeply mentally retarded females, now 28 and 20 years old respectively. Both presented prenatal growth retardation and severe postnatal growth retardation. Their craniofacial appearance is distinct with nasal hypoplasia, triangular mouth and thin lips. Both have a cleft palate and a retinal coloboma at the right eye. Motor development is below the age of 1 year with a complex neurological syndrome with axial hypotonia and spastic quadriplegia.

摘要

我们描述了两名无血缘关系的重度智力发育迟缓女性的临床症状及自然病史，她们现在分别为28岁和20岁。两人均出现产前生长发育迟缓及严重的产后生长发育迟缓。她们的颅面部外观独特，有鼻发育不全、三角形嘴及薄唇。两人均患有腭裂及右眼视网膜缺损。运动发育低于1岁水平，伴有复杂的神经综合征，表现为轴性肌张力减退和痉挛性四肢瘫。

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1
MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients.两名无亲缘关系的女性患者患有MCA/MR综合征，伴有严重的产前和产后生长发育迟缓、重度智力发育迟缓、具有独特面容，表现为鼻发育不全、腭裂和视网膜脉络膜缺损。
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