✦ LIBER ✦

Craniosynostosis, agenesis of the corpus callosum, severe mental retardation, distinctive facies, camptodactyly, and hypogonadism

✍ Scribed by Lin, Angela E. ;Gettig, Elizabeth

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 370 KB
Volume: 35
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320350427

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Agenesis of the corpus callosum with men

Agenesis of the corpus callosum with mental retardation and osseous lesions

✍ Kozlowski, Dr K. ;Ouvrier, R. A. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 319 KB 👁 2 views

X-linked mental retardation with agenesi

X-linked mental retardation with agenesis of the corpus callosum

✍ Fryns, Jean-Pierre 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB 👁 3 views

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 👁 1 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

Hallux duplication, postaxial polydactyl

Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: A new syndrome

✍ Schinzel, A. ;Schmid, W. 📂 Article 📅 1980 🏛 John Wiley and Sons 🌐 English ⚖ 485 KB 👁 2 views

A new X-linked syndrome with agenesis of

A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in theAlpha 4 gene at Xq13

✍ Graham Jr., John M. ;Wheeler, Patricia ;Tackels-Horne, Darci ;Lin, Angela E. ;Ha 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB 👁 1 views

## Abstract We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC). Both boys have low‐set cupped ears with sensorineural hearing loss, normal phall