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Jan 3, 2019 · Achondroplasia is one of a small number of so-called RAMP disorders – recurrent, autosomal dominant, male biased, paternal age effect disorders – all of which likely arise because of their positive selective effect on spermatogonia.
- Richard M. Pauli
- 2019
- Richard M. Pauli
- pauli@waisman.wisc.edu
- 2019
- Simplified diagram of the FGFR3 protein, including three immunoglobulin-like domains (Ig), a transmembrane domain (TM), and the split tyrosine kinase (TK) region.
- The body phenotype is shown in individuals of different ages: Left to right – infancy, early childhood, childhood and adulthood. In all, note the rhizomelic shortening of the limbs, which are disproportionately short compared with the trunk.
- Six portraits of children with achondroplasia. The variability of craniofacial features is evident. Lower left and lower center photographs originally published in Pauli RM (1995) Osteochondrodysplasias with mild clinical manifestations: A guide for endocrinologists and others.
- Anteroposterior radiograph of the pelvis and femora in an infant with achondroplasia. Characteristic findings include a squared-off pelvis, horizontal acetabula, very narrow sacrosciatic notch, characteristic proximal femoral radiolucency, and short and robust femora.
Nov 26, 2021 · Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a...
- Ravi Savarirayan, Penny Ireland, Melita Irving, Dominic Thompson, Inês Alves, Wagner A. R. Baratela,...
- 2021
May 18, 2021 · Achondroplasia is the most common short stature skeletal dysplasia (1:20,000–30,000), but the risk of adverse health outcomes from cardiovascular diseases, pain, poor function, excess weight, and...
- Julie E. Hoover-Fong, Adekemi Y. Alade, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Ma...
- 2021
- Risk Factors for Achondroplasia. The genetic defect can be passed from parent to child. However, in about 80 percent of cases, achondroplasia results from a spontaneous mutation (a sudden genetic defect) that occurs in the developing embryo.
- Achondroplasia Symptoms. The following are the most common symptoms of achondroplasia; however, each child may experience the condition differently: Shortened arms and legs, with the upper arms and thighs more affected than the forearms and lower legs.
- Achondroplasia Diagnosis. Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete medical history and physical examination.
- Neurologic Problems in Achondroplasia. Neurological impairment is caused by compression created as children grow faster than their bones. Arrested bone growth at the base of the skull and the spine can cause the spinal cord and brain stem to become compressed.
Oct 12, 1998 · Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion.
Aug 23, 2023 · It is associated with a high mortality rate, ranging from 2 to 5%. Common signs and symptoms include periods of apnea while sleeping and excessive snoring. Other subjective or objective findings include difficulty swallowing, lower cranial nerve palsies, hyperreflexia, generalized hypotonia, weakness, and clonus.
