✦ LIBER ✦
New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death
✍ Scribed by Gustavson, Karl-Henrik ;Annerén, Göran ;Malmgren, Helena ;Dahl, Niklas ;Ljunggren, Carl-Gustaf ;Bäckman, Hans
- Book ID
- 102703047
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 857 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Abstract
A family with an X‐linked mental retardation syndrome involving seven children in two generations is reported. The syndrome includes microcephaly, severe mental retardation, optic atrophy with severely impaired vision or blindness, a severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood.
We conclude that this is a distinct, previously unrecognized X‐linked mental retardation syndrome. © 1993 Wiley‐Liss, Inc.