Page last updated: 2024-10-31

apnea and Achondroplasia

apnea has been researched along with Achondroplasia in 12 studies

Apnea: A transient absence of spontaneous respiration.

Achondroplasia: An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

Research Excerpts

ExcerptRelevanceReference
"Thirteen infants with achondroplasia and sudden unexpected death or unexplained apnea were discovered through nonsystematic retrospective case collection."7.67Apnea and sudden unexpected death in infants with achondroplasia. ( Gilbert, EF; Hall, JG; Jones, KL; Leavitt, LA; Partington, MW; Pauli, RM; Scott, CI; Sommer, A; Ver Hoeve, J; Wassman, ER, 1984)
"Thirteen infants with achondroplasia and sudden unexpected death or unexplained apnea were discovered through nonsystematic retrospective case collection."3.67Apnea and sudden unexpected death in infants with achondroplasia. ( Gilbert, EF; Hall, JG; Jones, KL; Leavitt, LA; Partington, MW; Pauli, RM; Scott, CI; Sommer, A; Ver Hoeve, J; Wassman, ER, 1984)
"A 4-month-old female with homozygous achondroplasia and daytime apnea was found to have a small foramen magnum by computerized tomography."3.67Foramen magnum stenosis in homozygous achondroplasia. ( Butler, IJ; Goldie, WD; Hecht, JT; Horton, WA; Miner, ME; Pauli, RM; Shannon, R, 1986)
"The upper airway obstruction was not immediately apparent as the cause of subsequent clinical events."1.26Partial upper airway obstruction and sleep apnoea. ( Thomas, JN, 1978)

Research

Studies (12)

TimeframeStudies, this research(%)All Research%
pre-19906 (50.00)18.7374
1990's3 (25.00)18.2507
2000's0 (0.00)29.6817
2010's1 (8.33)24.3611
2020's2 (16.67)2.80

Authors

AuthorsStudies
Legare, JM1
Smid, CJ1
Modaff, P1
Pauli, RM3
Calame, DG1
Herman, I1
Bartlett, B1
Agurs, L1
Tran, BH1
Houck, K1
Babiker, MO1
Edwards, C1
Davies, P1
O'Kane, R1
Scott, CI1
Wassman, ER1
Gilbert, EF1
Leavitt, LA1
Ver Hoeve, J1
Hall, JG1
Partington, MW1
Jones, KL1
Sommer, A1
Fremion, AS1
Garg, BP1
Kalsbeck, J1
Najjar, JA1
Peitersen, SE1
Carter, LP1
Thomas, JN1
Helbing, WA1
van der Blij, JF1
ten Houten, R1
Broere, G1
Oorthuys, JW1
Mador, MJ1
Tobin, MJ1
Thomas, IT1
Frias, JL1
Williams, JL1
Friedman, WA1
Naeye, RL1
Hecht, JT1
Horton, WA1
Butler, IJ1
Goldie, WD1
Miner, ME1
Shannon, R1

Reviews

2 reviews available for apnea and Achondroplasia

ArticleYear
Magnetic resonance imaging in the assessment of medullary compression in achondroplasia.
    American journal of diseases of children (1960), 1988, Volume: 142, Issue:9

    Topics: Achondroplasia; Apnea; Central Nervous System; Cervical Vertebrae; Child; Child, Preschool; Cranial

1988
Sudden infant death syndrome, is the confusion ending?
    Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 1988, Volume: 1, Issue:3

    Topics: Achondroplasia; Apnea; Arrhythmias, Cardiac; Brain Stem; Breast Feeding; Dwarfism; Fatty Acids; Fema

1988

Other Studies

10 other studies available for apnea and Achondroplasia

ArticleYear
Achondroplasia is associated with increased occurrence of apparent life-threatening events.
    Acta paediatrica (Oslo, Norway : 1992), 2021, Volume: 110, Issue:6

    Topics: Achondroplasia; Apnea; Brief, Resolved, Unexplained Event; Databases, Factual; Humans; Infant; Retro

2021
Apneic Seizures in a Child with Achondroplasia.
    Neuropediatrics, 2021, Volume: 52, Issue:5

    Topics: Achondroplasia; Apnea; Child; Humans; Seizures

2021
Recurrent acute life-threatening events in a child with achondroplasia.
    Archives of disease in childhood. Education and practice edition, 2015, Volume: 100, Issue:1

    Topics: Achondroplasia; Apnea; Cervical Cord; Humans; Infant; Magnetic Resonance Imaging; Male; Medulla Oblo

2015
Apnea and sudden unexpected death in infants with achondroplasia.
    The Journal of pediatrics, 1984, Volume: 104, Issue:3

    Topics: Achondroplasia; Apnea; Cervical Vertebrae; Female; Humans; Infant; Male; Respiratory Center; Risk; S

1984
Apnea as the sole manifestation of cord compression in achondroplasia.
    The Journal of pediatrics, 1984, Volume: 104, Issue:3

    Topics: Achondroplasia; Apnea; Child, Preschool; Foramen Magnum; Humans; Infant; Male; Spinal Cord Compressi

1984
Craniocervical stenosis and apnea spells in a 2-month-old baby with achondroplasia.
    Journal of child neurology, 1995, Volume: 10, Issue:6

    Topics: Achondroplasia; Apnea; Cervical Vertebrae; Female; Humans; Infant; Magnetic Resonance Imaging

1995
Partial upper airway obstruction and sleep apnoea.
    The Journal of laryngology and otology, 1978, Volume: 92, Issue:1

    Topics: Achondroplasia; Aged; Airway Obstruction; Apnea; Body Height; Female; Humans; Sleep

1978
[Attacks of apnea in an infant with achondroplasia].
    Tijdschrift voor kindergeneeskunde, 1991, Volume: 59, Issue:3

    Topics: Achondroplasia; Apnea; Atrophy; Brain; Female; Humans; Infant; Life Expectancy; Magnetic Resonance I

1991
Apneustic breathing. A characteristic feature of brainstem compression in achondroplasia?
    Chest, 1990, Volume: 97, Issue:4

    Topics: Achondroplasia; Adult; Apnea; Brain Stem; Cervical Vertebrae; Child; Child, Preschool; Cranial Fossa

1990
Foramen magnum stenosis in homozygous achondroplasia.
    European journal of pediatrics, 1986, Volume: 145, Issue:6

    Topics: Achondroplasia; Apnea; Axis, Cervical Vertebra; Cervical Atlas; Constriction, Pathologic; Female; Fo

1986
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