Achondroplasia

Pauli, Richard M.

doi:10.1002/9780470893159.ch3

Cited by 3 publications

(5 citation statements)

References 69 publications

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“…aDefined as failure to thrive or growth below the 10th percentile for length, weight, or weight by length on achondroplasia specific growth grids [Pauli, ].…”

Section: Resultsmentioning

confidence: 99%

“…Children with severe laryngomalacia requiring surgery most often have some type of confounding factor resulting in the increased severity, including reflux, generalized hypotonia, neurologic disease or other congenital anomalies [Landry and Thompson, ]. Clearly, infants with achondroplasia have many potential confounding factors [Pauli, ].…”

Section: Discussionmentioning

confidence: 99%

“…Given the natural history of malacia, there is a possibility that airway malacia may have been present and resolved by the time these patients presented to our clinic, indicating that the frequency may be underestimated in this study. Finally, although not all of the patients had molecular confirmation of achondroplasia, it is not necessary to have such confirmation to be certain of the appropriate diagnosis [Pauli, ].…”

Section: Discussionmentioning

confidence: 99%

“…Achondroplasia is the most common skeletal dysplasia and is caused by mutations in fibroblast growth factor receptor 3 ( FGFR3 ) [Pauli, ]. Many complications of this condition are well defined [Pauli, ]; however, further elucidating the natural history of this condition, including complications that occur at lower frequency, should help clinicians provide better care.…”

Section: Introductionmentioning

confidence: 99%

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Airway malacia in children with achondroplasia

Dessoffy

Modaff

Pauli

2013

American J of Med Genetics Pt A

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This study was undertaken to assess the frequency of airway malacia in infants and young children with achondroplasia, a population well known to be at risk for a variety of respiratory problems. We also wished to evaluate what, if any, contribution airway malacia makes to the complex respiratory issues that may be present in those with achondroplasia. Retrospective chart review of all infants and young children with achondroplasia who were assessed through the Midwest Regional Bone Dysplasia Clinics from 1985 through 2012 (n = 236) was completed. Records of comprehensive clinical examinations, polysomnographic assessments, and airway visualization were reviewed and abstracted using a data collection form. Analyses were completed comparing the group with and those without evidence for airway malacia. Thirteen of 236 patients (5.5%) were found to have airway malacia. Most of those affected had lower airway involvement (9/13). The presence of airway malacia was correlated with an increased occurrence of obstructive sleep apnea as well as need for oxygen supplementation, airway surgeries and tracheostomy placement. Although estimates of the frequency of airway malacia in the general population are limited, its frequency in children with achondroplasia appears to be much higher than any published general population estimate. The presence of airway malacia appears to confound other breathing abnormalities in this population and results in the need for more invasive airway treatments.

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“…aDefined as failure to thrive or growth below the 10th percentile for length, weight, or weight by length on achondroplasia specific growth grids [Pauli, ].…”

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Airway malacia in children with achondroplasia

Dessoffy

Modaff

Pauli

2013

American J of Med Genetics Pt A

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“…Achondroplasia is the most common skeletal dysplasia,6 with an incidence of 0.5–1.5 per 10 000 live births 2. There are an estimated 651 000 people with dwarfism in the world and achondroplasia accounts for approximately 70% of these cases.…”

Section: Discussionmentioning

confidence: 99%

Acute upper airway obstruction and emergency front of neck access in an achondroplastic patient

et al. 2015

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Dwarfism is defined as a failure to attain a height of 148 cm in adulthood. Achondroplasia is the most common form of short-limbed dwarfism. Although this condition is relatively rare, with an incidence of 0.5-1.5 per 10,000 live births, most medical professionals will come across the achondroplastic dwarf (AD) during their career. Faulty endochondral ossification produces the characteristic short stature phenotype, as well as severe craniofacial, central nervous system, spinal, respiratory and cardiac anomalies. These unusual characteristics may present airway management difficulties in elective as well as emergency situations. Within the literature there is very little information regarding the emergency insertion of a surgical airway in an adult AD. We present our experience of this situation in the form of a case report and a review of the relevant literature.

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The circular economy and circular economic concepts—a literature analysis and redefinition

Geisendorf

Pietrulla

2017

Thunderbird Intl Bus Rev

286

131

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This article proposes a revised definition of the circular economy after having analyzed and compared the most prominent related concepts. Based on an analysis of academic literature, defining characteristics of different concepts are identified to structure the field of research. The comparison of concepts serves as a basis for the synthesis: a revised definition of the circular economy. While most concepts overlap, they emphasize different issues. Our classification helps to distinguish how concepts are situated in dimensions such as industry/service oriented, efficiency/zero waste target, or micro/macro scope. The revised definition distinguishes between core characteristics of a circular economy and framing conditions enabling its implementation. It has the potential to support both researchers and practitioners to develop clearer guidelines for the path to a circular economy.

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Achondroplasia

Cited by 3 publications

References 69 publications

Airway malacia in children with achondroplasia

Airway malacia in children with achondroplasia

Acute upper airway obstruction and emergency front of neck access in an achondroplastic patient

The circular economy and circular economic concepts—a literature analysis and redefinition

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