✦ LIBER ✦
Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies
✍ Scribed by Jonas, Roy E.; Kimonis, Virginia E.; Morales, Augusto
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 48 KB
- Volume
- 73
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
We describe a brother and sister with severe developmental delay, hypotonia, partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter degenerative abnormalities, macrocrania, frontal bossing, deep-set eyes, and hypertelorism. The brother also had Duane syndrome type II and an ectopic right ureter. The coexistence of these multiple physical and brain abnormalities in a brother and sister suggests a new autosomal recessive syndrome with a slowly progressive course.