A NEW FAMILIAL SYNDROME OF ORAL CRANIAL AND DIGITAL ANOMALIES

被引:40
作者
JUBERG, RC
HAYWARD, JR
机构
[1] Department of Pediatrics, School of Medicine, University of Michigan, Ann Arbor, MI
[2] Department of Human Genetics, School of Medicine, University of Michigan, Ann Arbor, MI
[3] Department of Oral Surgery, School of Dentistry, University of Michigan, Ann Arbor, MI
关键词
D O I
10.1016/S0022-3476(69)80138-1
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
A sibship of 6 from nonconsanguineous, normal parents is described in which 5 had oneor more of a specific group of oral, cranial, and digital anomalies. The 2 brothers had cleft lip and palate, microcephalus, hypoplasia and distal placement of both thumbs, and bilateral elbow deformities which limited extension. One of the 2 brothers had toe anomalies which were also present in 3 of the 4 sisters. The other defects among the sisters included microcephalus and interphalangeal inflexibility of both thumbs in one and an occult cleft lip in another. This constellation of defects is most likely due to a single, autosomal recessive gene with variable expressivity in the homozygote. © 1969 The C. V. Mosby Company.
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页码:755 / &
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