achondroplasia/hypoxia

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A case of achondroplasia with severe pulmonary hypertension due to obstructive sleep apnea.

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Achondroplasia is the most common skeletal dysplasia in children. Achondroplasic patients have a short cranial face and midface hypoplasia. They often have sleep-related respiratory disturbances that lead to hypoxemia caused by midfacial hypoplasia, a small upper airway, hypotonia of airway muscles,

Sleep-disordered breathing in children with achondroplasia.

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OBJECTIVE Our objective was to characterize sleep-disordered breathing in 88 children with achondroplasia aged 1 month to 12.6 years. RESULTS At the time of their initial polysomnography, five children had previously undergone tracheostomy, and seven children required supplemental oxygen. Initial

Neurological basis of respiratory complications in achondroplasia.

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Evaluation of 32 individuals with achondroplasia revealed that 28% had a history of apnea and 22% had respiratory abnormalities on polysomnography. In those patients requiring posterior fossa decompressive surgery, improvement was noted in follow-up polysomnograms. Multimodality studies suggested

Respiratory complications of achondroplasia.

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Nine patients with achondroplasia who were seen over a three-year period developed significant respiratory complications. Eight had sleep-disordered breathing, including obstructive sleep apnea in five, for which two required tracheostomy. Of the seven patients with significant hypoxemia, five had

Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation.

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We studied prospectively 26 young patients with achondroplasia to test two hypotheses: that respiratory problems may be the result of occult spinal cord compression, and that achondroplastic patients with cord compression might have occult respiratory abnormalities. Respiratory abnormalities were

FGFR3/fibroblast growth factor receptor 3 inhibits autophagy through decreasing the ATG12-ATG5 conjugate, leading to the delay of cartilage development in achondroplasia.

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FGFR3 (fibroblast growth factor receptor 3) is a negative regulator of endochondral ossification. Gain-of-function mutations in FGFR3 are responsible for achondroplasia, the most common genetic form of dwarfism in humans. Autophagy, an evolutionarily conserved catabolic process, maintains

Anesthesia for cesarean delivery in an achondroplastic dwarf: a case report.

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There are more than 100 different types of dwarfism. Achondroplasia is the most common form of this rare condition. The incidence of achondroplasia in the United States is about 15 per 1 million births. Although inherited as an autosomal dominant condition, 80% of cases result from spontaneous

Airway problems caused by hypogonadism in male patients undergoing neurosurgery.

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Unanticipated difficult endotracheal intubations can pose challenges for the anesthesiologist. Risks include airway injury, hypoxemia, and death. There is intubation difficulty in various conditions including Downs syndrome, achondroplasia, acromegaly, and dwarfism. We describe difficulty in

Prenatal craniofacial development: new insights on normal and abnormal mechanisms.

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Technical advances are radically altering our concepts of normal prenatal craniofacial development. These include concepts of germ layer formation, the establishment of the initial head plan in the neural plate, and the manner in which head segmentation is controlled by regulatory (homeobox) gene

Prenatal craniofacial development: new insights on normal and abnormal mechanisms.

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