๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Microcephalic osteodysplastic dysplasia

โœ Scribed by Hersh, J. H. ;Joyce, M. R. ;Spranger, J. ;Goatley, E. C. ;Lachman, R. S. ;Bhatt, S. ;Rimoin, D. L.

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
576 KB
Volume
51
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

โœฆ Synopsis

We present two patients with a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, microcephaly, and normal intelligence. Similar radiographic abnormalities of the spine, long bones, hands, and feet were noted. These patients are similar to 2 males previously described by Saul and Wilson 11990: Am J Med Genet 35:3883931. These 4 patients appear to have a unique skeletal dysplasia characterized by microcephaly, distinct facial phenotype, multisystem abnormalities, and short stature of postnatal Onset.

๐Ÿ“œ SIMILAR VOLUMES

Microcephalic osteodysplastic primordial
Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome)
โœ Taybi, Hooshang ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 66 KB

I have reviewed with special interest the articles that have appeared in your journal on the subject of microcephalic osteodysplastic primordial dwarfism since 1982. The most recent publication was the Letter to the Editor by Meinecke et al. 119911. Some of the cases included in these papers under t

Microcephalic osteodysplastic primordial
Microcephalic osteodysplastic primordial dwarfism type ii: Report of three cases and review
โœ Majewski, Frank; Goecke, Timm O. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 51 KB ๐Ÿ‘ 2 views

We report on three further patients with microcephalic osteodysplastic dwarfism type II. All children have marked intrauterine and postnatal growth failure, microcephaly, and mental and statomotor retardation. They are disproportionately short statured due to short limbs. Characteristic skeletal abn