Surgical treatment for sleep apnea: changes in craniofacial and pharyngeal airway morphology in a child with achondroplasia.
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Here, we report the case of a male child with achondroplasia who was diagnosed with obstructive sleep apnea and underwent adenoidectomy and tonsillectomy. By analyzing lateral cephalograms, we evaluated the craniofacial and pharyngeal airway morphology immediately before surgery (age, 5 years 6 months) and 1 year 2 months after surgery (age, 6 years 8 months). Adenoidectomy and tonsillectomy dilated the pharynx and improved the craniofacial and pharyngeal morphologies, apparently thus improving the sleep apnea. (+info)
Snail1 is a transcriptional effector of FGFR3 signaling during chondrogenesis and achondroplasias.
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Achondroplasias are the most common genetic forms of dwarfism in humans. They are associated with activating mutations in FGFR3, which signal through the Stat and MAPK pathways in a ligand-independent manner to impair chondrocyte proliferation and differentiation. Snail1 has been implicated in chondrocyte differentiation as it represses Collagen II and aggrecan transcription in vitro. Here we demonstrate that Snail1 overexpression in the developing bone leads to achondroplasia in mice. Snail1 acts downstream of FGFR3 signaling in chondrocytes, regulating both Stat and MAPK pathways. Moreover, FGFR3 requires Snail1 during bone development and disease as the inhibition of Snail1 abolishes its signaling even through achondroplastic- and thanatophoric-activating FGFR3 forms. Significantly, Snail1 is aberrantly upregulated in thanatophoric versus normal cartilages from stillborns. Thus, Snail activity may likely be considered a target for achondroplasia therapies. (+info)
Lumbar nerve root occupancy in the foramen in achondroplasia: a morphometric analysis.
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Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height.
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BACKGROUND: Achondroplasia is the most common short stature skeletal dysplasia, with an estimated worldwide prevalence of 250 000. Body mass index (BMI)-for-age references are required for weight management guidance for children with achondroplasia, whose body proportions are unlike those of the average stature population. OBJECTIVE: This study used weight and height data in a clinical setting to derive smoothed BMI-for-age percentile curves for children with achondroplasia and explored the relation of BMI with its components, weight and height. DESIGN: This was a longitudinal observational study of anthropometric measures of children with achondroplasia from birth through 16 y of age. RESULTS: The analysis included 1807 BMI data points from 280 children (155 boys, 125 girls) with achondroplasia. As compared with the BMI of peers of average stature, the BMI in children with achondroplasia is higher at birth, lacks a steep increase in infancy and a later nadir between 1 and 2 y of age, and remains substantially higher through 16 y of age in both sexes. Patterns of change in height and weight in children with achondroplasia are unique in that there is no overlap in the height distribution after 6 mo of age and no spike in height velocity during infancy or puberty-the 2 periods of greatest linear growth in individuals of average stature. CONCLUSIONS: Sex- and age-specific BMI curves are available for children with achondroplasia (birth to 16 y of age) for health surveillance and future research to determine associations with health outcomes (eg, cardiovascular disease, diabetes, and indication for and outcome of surgery). (+info)
FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.
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Ossification of the thoracic ligamentum flavum in an achondroplastic patient: a case report.
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We report a case of spinal stenosis with ossification of the thoracic ligamentum flavum in a 53-year-old man with achondroplasia. Neurological signs indicated flaccid paralysis below L1, and the patient was unable to walk. Ossification of the ligamentum flavum was observed at T4/5 and T9 to T12, compressing the thecal sac. Laminectomy of T9 to L1 was performed. At one-year follow-up, the patient was able to walk with one elbow crutch. (+info)
Anatomic considerations for radical retropubic prostatectomy in an achondroplastic dwarf.
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