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Severe "short-limb" dwarfism
- ... gene has been identified in people with SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). SADDAN is characterized by short-limb dwarfism (achondroplasia); profound developmental delay; and thick, dark, velvety ...
- ... in this disorder.People with anauxetic dysplasia have dwarfism with unusually ... and paralysis. In severe cases, the spinal cord compression may lead to ...
- ... syndrome Krause-van Schooneveld-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters' plus syndrome Peters'-plus syndrome Genetic ...
- Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, ...
- Osteochondrodysplasias (Merck & Co., Inc.)achondroplasia,short stature,connective tissue disorder,short limbs,dwarf,dwarves,little people,little person,dwarfism
- ... type pituitary dwarfism Laron-type short stature Pituitary dwarfism II Primary GH resistance Primary growth hormone resistance Severe GH insensitivity Genetic Testing Registry: Laron-type isolated ...
- ... disorder of bone growth characterized by short stature (dwarfism) with other ... unusually short limbs and short stature from birth. They typically have ...
- ... 3 mutations in achondroplasia and related forms of dwarfism. Rev Endocr Metab Disord. 2002 Dec;3(4): ...