Abstract
We report on 2 sibs with a previously unreported type of mesomelia of the upper limbs due to ulnar hypoplasia. Prenatal diagnosis was made by ultrasound during one pregnancy and an affected fetus was confirmed. This family documents a previously unreported autosomal recessive syndrome.
Original language | English |
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Pages (from-to) | 132-135 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics |
Volume | 56 |
Issue number | 2 |
DOIs | |
State | Published - 1995 |
Externally published | Yes |
Keywords
- autosomal recessive
- club feet
- familial
- mental retardation
- nail dysplasia
- ulna hypoplasia