Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect
- 1 July 1987
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 27 (3) , 651-660
- https://doi.org/10.1002/ajmg.1320270319
Abstract
This paper illustrates a syndrome of distal limb deficiency and oral defects in two sibs, a moderately mentally retarded man and his mildly retarded sister. Both have microretrognathia, microstomia, normal tongue, and symmetric severe limb deficiencies. This seems to be a previously undescribed syndrome. The nosology of the different orofacial syndromes associated with distal limb deficiencies is discussed.Keywords
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