✦ LIBER ✦

Cervical stenosis secondary to rhizomelic chondrodysplasia punctata

✍ Scribed by Khanna, A. Jay ;Braverman, Nancy E. ;Valle, David ;Sponseller, Paul D.

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 167 KB
Volume: 99
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20010215)99:1<63::aid-ajmg1117>3.0.co;2-9

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Severe tracheobronchial stenosis and cer

Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata

✍ Gerhard S. Mundinger; Clifford Weiss; Elliot K. Fishman 📂 Article 📅 2009 🏛 Springer-Verlag 🌐 English ⚖ 209 KB

Prenatal diagnosis of rhizomelic chondro

Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

✍ Karen M. Brookhyser; Mark H. Lipson; Ann B. Moser; Hugo W. Moser; Ralph S. Lachm 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB

Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed. A case is presented with a family having one daughter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthase) deficiency, and three subsequent pregnancies. B

Brachytelephalangic chondrodysplasia pun

Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases

✍ Thomas E. Herman; Benjamin C. Lee; William H. McAlister 📂 Article 📅 2002 🏛 Springer-Verlag 🌐 English ⚖ 178 KB

Cervical spine stenosis and possible vit

Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system

✍ Eash, Delaina D. ;Weaver, David D. ;Brunetti-Pierri, Nicola 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 164 KB