✦ LIBER ✦

Chudley-McCullough syndrome: Expanded phenotype and review of the literature

✍ Scribed by Welch, Katherine Oelrich ;Tekin, Mustafa ;Nance, Walter E. ;Blanton, Susan H. ;Arnos, Kathleen S. ;Pandya, Arti

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 238 KB
Volume: 119A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.10180

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genotypic and phenotypic characterizatio

Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

✍ Marjolijn Jongmans; Erik A. Sistermans; Alwin Rikken; Willy M. Nillesen; Rienk T 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 130 KB 👁 1 views

Muenke syndrome (FGFR3-related craniosyn

Muenke syndrome (FGFR3-related craniosynostosis): Expansion of the phenotype and review of the literature

✍ Emily S. Doherty; Felicitas Lacbawan; Donald W. Hadley; Carmen Brewer; Christoph 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 346 KB 👁 1 views

## Abstract Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the Pro250Arg mutation in the __FGFR3__ gene. Reduced penetrance and variable expressivity contribute to

The Hunter–MacDonald syndrome with expan

The Hunter–MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review

✍ Linlea Armstrong; Gail E. Graham; R. Neil Schimke; Debra L. Collins; Daniel J. K 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 463 KB 👁 1 views

## Abstract Hunter–MacDonald syndrome (HMS) is a rare, autosomal dominant skeletal dysplasia with multiple malformations. The skeletal manifestations of HMS include short stature, scoliosis, epiphyseal dysplasia with early osteoarthritis leading to joint replacement, prominent humeral insertions fo

Sebastian syndrome: Case report and revi

Sebastian syndrome: Case report and review of the literature

✍ Young, Guy; Luban, Naomi L.C.; White, James G. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 195 KB 👁 1 views

Macrothrombocytopenias (MTCP) are a heterogeneous group of disorders associated with thrombocytopenia and giant platelets, and may include other clinical or laboratory findings such as hereditary nephritis, sensorineural deafness, leukocyte inclusions, and cataracts. Patients with MTCP may have mild

Brothers with Chudley–McCullough syndrom

Brothers with Chudley–McCullough syndrome: Sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities

✍ Elsebet Østergaard; Vibeke Faurholt Pedersen; Elisabeth B. Skriver; Karen Brøndu 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB 👁 1 views

King syndrome: Further clinical variabil

King syndrome: Further clinical variability and review of the literature

✍ Graham, G.E.; Silver, K.; Arlet, V.; Der Kaloustian, V.M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

The King syndrome is characterized by a Noonan-like phenotype, the presence of a nonspecific myopathy and a predisposition to malignant hyperthermia. In some families, mild physical manifestations of the phenotype and/or elevated serum creatine phosphokinase (CPK) in relatives suggest the presence o