✦ LIBER ✦

Progressive facial disfigurement and deafness in craniometaphyseal dysplasia

✍ Scribed by C. K. Vasu; V. R. Rajendran; A. N. Regi George; P. Anoop; M. A. Anjay

Book ID: 110671769
Publisher: Springer-Verlag
Year: 2006
Tongue: English
Weight: 519 KB
Volume: 73
Category: Article
ISSN: 0019-5456
DOI: 10.1007/bf02763055

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Otolaryngological disorders in craniomet

Otolaryngological disorders in craniometaphyseal dysplasia.

✍ Glenn Kietzer; Michael M. Paparella 📂 Article 📅 1969 🏛 John Wiley and Sons 🌐 English ⚖ 998 KB

Optic Atrophy and Visual Loss in Craniom

Optic Atrophy and Visual Loss in Craniometaphyseal Dysplasia

✍ Puliafito, Carmen A.; Wray, Shirley H.; Murray, Joseph E.; Boger, William P. 📂 Article 📅 1981 🏛 Elsevier Science 🌐 English ⚖ 1010 KB

Temporal aspects in craniometaphyseal dy

Temporal aspects in craniometaphyseal dysplasia: Autosomal recessive type

✍ El�ioglu, Nursel; Hall, Christine M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 38 KB 👁 2 views

We present the clinical and radiographic findings in a patient with the autosomal recessive form of craniometaphyseal dysplasia (CMD). The changes from infancy to the age of 17 years are illustrated and discussed. Am.

Autosomal recessive deafness with skelet

Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome

✍ Miny, Peter ;Lenz, Widukind ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 515 KB

## Abstract We report on two sibs born to consanguineous parents with clinical and radiological features closely resembling those previously described by Insley and Astley [1974]. This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of M

Heterozygous mutations in ANKH, the huma

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

✍ Nürnberg, Peter; Thiele, Holger; Chandler, David; Höhne, Wolfgang; Cunningham, M 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 758 KB

Craniometaphyseal dysplasia in six gener

Craniometaphyseal dysplasia in six generations of a German kindred

✍ Tinschert, Sigrid; Braun, Hans-Steffen 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 65 KB 👁 2 views

Craniometaphyseal dysplasia (CMD) was found in 6 generations of a large German kindred; 24 affected individuals were identified. The clinical diagnosis was confirmed by further examinations in 15 individuals, including 2 exhumed skeletons. Five deceased individuals were considered to be undoubtedly