𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Expanding the skeletal phenotype of Loeys-Dietz syndrome

✍ Scribed by Sérgio B. Sousa; Karen Lambot-Juhan; Marlène Rio; Geneviève Baujat; Vicken Topouchian; Nadine Hanna; Martine Le Merrer; Francis Brunelle; Arnold Munnich; Catherine Boileau; Valérie Cormier-Daire

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
193 KB
Volume
155
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

New guidelines for diagnosis of Marfan a
New guidelines for diagnosis of Marfan and Loey-Dietz syndromes
✍ Deborah Levenson 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 136 KB 👁 1 views

R ecognizing and dis- tinguishing potentially life-threatening Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) is often difficult, but 3 new papers may ease the process and steer patients to appropriate treatment. MFS is caused by a mutation in the gene that expresses the protein fibrillin-1,

Genitopatellar syndrome: Expanding the p
Genitopatellar syndrome: Expanding the phenotype
✍ Lifchez, Caroline A. ;Rhead, William J. ;Leuthner, Steven R. ;Lubinsky, Mark S. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 1 views
Blepharocheilodontic (BCD) syndrome: Exp
Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?
✍ Lopes, Vera L�cia Gil da Silva ;Guion-Almeida, Maria Leine ;Rodini, Elaine Sbrog 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 1 views

## Abstract We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observ

Germline TGF-β receptor mutations and sk
Germline TGF-β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome
✍ Salman Kirmani; Peter J. Tebben; Aida N. Lteif; David Gordon; Bart L. Clarke; Th 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB

## Abstract Loeys–Dietz syndrome (LDS, OMIM # 609192) caused by heterozygous mutations in __TGFBR1__ and __TGFBR2__ has recently been described as an important cause of familial aortic aneurysms. These patients have craniofacial and skeletal features that overlap with the Marfan syndrome (MFS), and

Expanded phenotype of cranioectodermal d
Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)
✍ Amar, M. J. A.; Sutphen, R.; Kousseff, B. G. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 392 KB 👁 2 views

Cranioectodermal dysplasia (CED) is an autosomal recessive condition characterized by defects of ectoderm-derived structures and characteristic bone anomalies. We report on a 27-month-old Caucasian girl with CED, pre- and postnatal growth retardation, microcephaly, hypoplasia of the posterior corpus