Respiratory complications of achondroplasia

Stokes, Dennis C.; Phillips, John A.; Leonard, Carly J.; Dorst, John P.; Kopits, Steven E.; Trojak, Joseph E.; Brown, David L.

doi:10.1016/s0022-3476(83)80180-2

Cited by 128 publications

(64 citation statements)

References 30 publications

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“…36 Living at high elevation markedly increases the risk that restrictive problems will develop. If there are signs of respiratory distress or evidence of poor weight gain despite adequate caloric intake, pulse oximetry (during feeding, when crying, and at rest) should be considered to monitor oxygenation.…”

Section: The Prenatal Visitmentioning

confidence: 99%

Health Supervision for Children With Achondroplasia

Trotter¹,

Hall²

2005

Pediatrics

188

137

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ABSTRACT. Achondroplasia is the most common condition associated with disproportionate short stature. Substantial information is available concerning the natural history and anticipatory health supervision needs in children with this dwarfing disorder. Most children with achondroplasia have delayed motor milestones, problems with persistent or recurrent middle-ear dysfunction, and bowing of the lower legs. Less often, infants and children may have serious health consequences related to hydrocephalus, craniocervical junction compression, upper-airway obstruction, or thoracolumbar kyphosis. Anticipatory care should be directed at identifying children who are at high risk and intervening to prevent serious sequelae. This report is designed to help the pediatrician care for children with achondroplasia and their families. Pediatrics 2005;116:771-783; achondroplasia, short stature, children, health supervision.

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Section: The Prenatal Visitmentioning

confidence: 99%

Health Supervision for Children With Achondroplasia

Trotter¹,

Hall²

2005

Pediatrics

188

137

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“…Deformative stress due to chronic flexion extension injuries were noted in patients with angulation of the brainstem [76,78,79,84] and attributed to the fulcrum effect of the medullo-spinal junction draped over the odontoid [17]. Deformative stress is evident in achondroplasia [85][86][87][88][89], platybasia [84,90,91], acquired bonesoftening conditions such as rickets, hyperparathyroidism, spondyloepiphyseal dysplasia, acroosteolysis, Hurler's Syndrome, osteomalacia, achondromalacia, renal osteodystrophy, Paget's disease, and degenerative conditions such as rheumatoid arthritis [35,51,72,[92][93][94][95][96][97][98][99] and osteogenesis imperfecta [100,101]. The horizontally tipped odontoid may deform the brainstem, especially in flexion [18,102].…”

Section: Cranio-cervical Anatomical Abnormalities That May Give Rise mentioning

confidence: 99%

Clinical and Finite Element Analysis of Acute Whiplash

Tannoury¹,

Rihn²,

Wilson³

et al. 2011

TOSPINEJ

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Study Design:A prospective 1-year follow-up study of whiplash patients presenting with neurological signs/or symptoms (WADIII), and whiplash patients with neck pain but no neurologic findings (WADI/II). Objective:We hypothesize that WADI/II and WADIII are distinct entities, with regards to clinical presentation, pathoanatomy, and prognosis.Summary of Background Data: symptoms associated with whiplash injury range from mild neck pain (WADI/II), to injuries associated with neurologic sequellae (WADIII). To date, literature considers whiplash associated disorders (WAD) a single clinical and pathologic entity, with different grades of severity (WADI-IV).Methods: Thirty one subjects were divided into a WADIII study group and a WADI/II comparison group. All subjects underwent H&P, radiographic evaluations, and clinical outcome measures (collected at 3, 6, and 12 months). Statistical analysis was performed (Student T-test, Wilcoxon Signed-Rank test) with significance set at p=0.05. A finite element analysis (FEA) technology (SCOSIA©) was used to predict stresses within the neuraxis.Results: At day 0: Better neurologic assessments, functional performances, and higher quality-of-life measurements were noted in WADI/II compared to WADIII. VAS scores were comparable.At 12 months: Both groups reported improvements in neurologic status and disability symptoms. However functional recovery and quality-of-life measures significantly improved in WADIII, and conversely deteriorated in WADI/II along with notable worsening of pain symptoms. Litigation claims were comparable. FEA predicted higher stress within the neuraxis of WADIII, notably in subjects with preexisting stenosis and odontoid retroflexion. Conclusion:WADI/II and WADIII are distinct entities. Musculoskeletal injury precipitates WADI/II pain symptoms while neuronal stretching leads to WADIII neurologic injuries, which are mostly recoverable.

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“…Although a history of recent acute respiratory illness, occurring in one third of the patients, suggests that the process represents a stage in the resolution of acute pneumonia, successful culture of the organism is unlikely, because the organism has been eradicated by normal host defences long before radiographic detection of the lesion [1]. As achondroplastic patients develop recurrent pulmonary infections, due to thoracic cage deformity produced by abnormal rib development [7], an antecedent pulmonary infection could be associated with the pathogenesis of this tumour in this particular patient. Nevertheless, we were not able to trace this in the patient's history.…”

Section: Case Historymentioning

confidence: 99%