𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A new case of the osteodysplastic primordial dwarfism type II

✍ Scribed by Willems, Patrick J. ;Rouwé, Catrienus ;Smit, G. Peter A. ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
365 KB
Volume
26
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Microcephalic osteodysplastic primordial
✍ Majewski, Frank; Goecke, Timm O. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 1 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

Autosomal recessive severe dwarfism in a
✍ Corsello, Giovanni; Albanese, Achille; Piccione, Maria; Giuffrè, Mario; Opitz, J 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 414 KB 👁 1 views

A new type of osteodysplastic primordial dwarfism is delineated in a 5-year-old female child with severe growth retardation of prenatal onset, gross skeletal changes, a non-Seckel facial phenotype, and presumed autosomal recessive inheritance.

Microcephalic osteodysplastic primordial
✍ Sigaudy, S.; Toutain, A.; Moncla, A.; Fredouille, C.; Bourli�re, B.; Ayme, S.; P 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 86 KB 👁 1 views

Microcephalic and osteodysplastic primordial dwarfism (MODP) types I, II, and III were defined by Majewski et al. in 1982. This group of syndromes was characterized by intrauterine growth retardation, microcephaly, and typical facial appearance with prominent nose and micrognathia. Type II was clear

Majewski osteodysplastic primordial dwar
✍ Francesco Brancati; Marco Castori; Rita Mingarelli; Bruno Dallapiccola 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 155 KB

## Abstract We report on a 2 9/12‐year‐old boy with disproportionate short stature, microcephaly, subtle craniofacial dysmorphisms, and generalized skeletal dysplasia, who developed a left hemiparesis. Brain neuroimaging disclosed a complex cerebral vascular anomaly (CVA) with stenosis of the right