4日前 -R: rhizomelic (short limbs). O: obesity. P: posterior vertebral body scalloping, proximal limb shortening. La: large head (frontal bossing). S: squared iliac ...
6日前 -... Rhizomelic chondrodysplasia punctata; Secundum atrial septal defects; Sifrim-Hitz-Weiss syndrome; Sinus venosus defects; Smith–Lemli–Opitz syndrome ...
5日前 -Rhizomelic Chondrodysplasia Punctata Type 1. 1 variant in the PEX7 gene. Salla Disease. 1 variant in the SLC17A5 gene; relevant for Finnish, Swedish descent.
5日前 -A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae ...
6日前 -... rhizomelic shortening of the arms, and trident hand; 1c) proximal femoral radiolucency and narrow sacrosciatic notch; 1d) narrowing of the interpedincular ...
6日前 -Rapid-onset obsessive-compulsive disorder (OCD) has been classically described in the context of infectious and autoimmune stressors, most famously PANDAS ...
5日前 -A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, ...
4日前 -Her top areas of expertise are Rheumatoid Arthritis (RA), Rhizomelic Pseudopolyarthritis, Polymyalgia Rheumatica, and Acute Febrile Neutrophilic Dermatosis.
5日前 -... rhizomelic short stature: a retrospective study of 15 patients with a minimum follow-up of 2 years. Björn Vogt, Andrea Laufer, Georg Gosheger, Gregor ...
6日前 -Achondroplasia is a congenital genetic disorder resulting in rhizomelic dwarfism and is the most common skeletal dysplasia. It has numerous ...