Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: A new autosomal recessive syndrome?

Possible new autosomal recessive syndrom

Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies

✍ Jonas, Roy E.; Kimonis, Virginia E.; Morales, Augusto 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 48 KB 👁 2 views

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