Respiratory System - Abnormalities

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Human congenital diaphragmatic hernia
Human congenital diaphragmatic hernia[1]

Abnormalities of the respiratory system include not only lung development but also the upper respiratory tract, the supporting musculoskeletal system and the vascular and neural system. In addition, some respiratory problems arise from prematurity of birth or difficulty with the birth process itself.

The functional part of the respiratory system, the alveoli, continue to develop the postnatal period and through childhood (Postnatal alveoli number graph).

Respiratory Links: Introduction | Science Lecture | Med Lecture | Stage 13 | Stage 22 | Upper Respiratory Tract | Diaphragm | Histology | Postnatal | Abnormalities | Respiratory Quiz | Category:Respiratory
Historic Embryology  
1902 The Nasal Cavities and Olfactory Structures | 1906 Lung | 1912 Upper Respiratory Tract | 1912 Respiratory | 1914 Phrenic Nerve | 1918 Respiratory images | 1921 Respiratory | 1922 Chick Pulmonary Vessels | 1934 Right Fetal Lung | 1936 Early Human Lung | 1938 Human Histology
International Classification of Diseases - Respiratory
Abnormality Links: Introduction | Genetic | Environmental | Unknown | Teratogens | Cardiovascular | Coelomic Cavity | Endocrine | Gastrointestinal Tract | Genital | Head | Integumentary | Musculoskeletal | Limb | Neural | Neural Crest | Renal | Respiratory | Placenta | Sensory | Hearing | Vision | Twinning | Developmental Origins of Health and Disease | ICD-10
Historic Embryology  
1915 Congenital Cardiac Disease | 1917 Frequency of Anomalies in Human Embryos | 1920 Hydatiform Degeneration Tubal Pregnancy | 1921 Anencephalic Embryo

Some Recent Findings

  • Trends in treatment and in-hospital mortality for neonates with congenital diaphragmatic hernia[2] "We performed a retrospective cohort study in order to examine recent trends in use of post-partum treatments and in-hospital mortality for congenital diaphragmatic hernia (CDH). Survival improved in large subgroups of term or near-term infants with CDH in this 10-year multicenter cohort, temporally associated with increasing use of multiple vasodilators. Use of vasodilators for infants with CDH is increasing despite a lack of evidence supporting efficacy or safety. Prospective research is needed to clarify specific causal effects contributing to improving survival in these infants."
  • Surfactant Metabolism Dysfunction and Childhood Interstitial Lung Disease (chILD).[3] "Surfactant deficiency and the resultant respiratory distress syndrome (RDS) seen in preterm infants is a major cause of respiratory morbidity in this population. Until recently, the contribution of surfactant to respiratory morbidity in infancy was limited to the neonatal period. It is now recognised that inborn errors of surfactant metabolism leading to surfactant dysfunction account for around 10% of childhood interstitial lung disease (chILD)."
More recent papers
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This table shows an automated computer PubMed search using the listed sub-heading term.

  • Therefore the list of references do not reflect any editorial selection of material based on content or relevance.
  • References appear in this list based upon the date of the actual page viewing.

References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.

Links: References | Discussion Page | Pubmed Most Recent | Journal Searches

Search term: Abnormal Respiratory Development'

Hossein Hassanian-Moghaddam, Masumeh Hakiminejhad, Fariba Farnaghi, Amirhossein Mirafzal, Nasim Zamani, Ali Kabir Eleven years of children methadone poisoning in a referral center: A review of 453 cases. J Opioid Manag: 2017, 13(1);27-36 PubMed 28345744

Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. Am. J. Med. Genet. A: 2017; PubMed 28332779

Tutku Soyer, Sule Yalcin, Selen Serel Arslan, Numan Demir, Feridun Cahit Tanyel Pediatric Eating Assessment Tool-10 as an indicator to predict aspiration in children with esophageal atresia. J. Pediatr. Surg.: 2017; PubMed 28318598

Paula M Brna, A Simon Harvey, Richard J Leventer Hemispheric polymicrogyria and neonatal seizures: a potentially life-threatening combination. Epileptic Disord: 2017; PubMed 28300030

Thanushiyan Poobalasingam, Laura L Yates, Simone A Walker, Miguel Pereira, Nina Y Gross, Akmol Ali, Maria Kolatsi-Joannou, Marjo-Riitta Jarvelin, Juha Pekkanen, Eugenia Papakrivopoulou, David A Long, Mark Griffiths, Darcy Wagner, Melanie Königshoff, Matthew Hind, Cosetta Minelli, Clare M Lloyd, Charlotte H Dean Heterozygous Vangl2(Looptail) mice reveal novel roles for the planar cell polarity pathway in adult lung homeostasis and repair. Dis Model Mech: 2017; PubMed 28237967

Premature Birth


Preterm delivery and lung development.jpg

Preterm delivery and overview of related potential fetal and neonatal infections can effect lung development. [5]

After very preterm birth, the chorioamnionitis associated commensal organism is usually Ureaplasma urealyticum.[6]

Links: Chorioamnionitis | Bacterial Infection

Tracheoesophageal Fistula

(Tracheo-Oesophageal Fistula, Oesophageal Atresia) - Oesophageal Atresia with or without tracheo-oesophageal fistula

Laryngeal-tracheo-oesophageal Cleft

Laryngeal-Tracheo-Oesophageal Ceft, Type III LC, endoscopic view[7]

(LC, laryngeal cleft) A rare foregut abnormality allowing digestive tract and the airway to communicate causing chronic cough, aspiration and respiratory distress.

The downward extension of the cleft determines the classification of the abnormality,[8][9] see also review.</ref>[7]

  • Type 0 - submucosal cleft
  • Type I - supraglottic, interarytenoid cleft, above the vocal fold level
  • Type II - cleft extending below the vocal folds into the cricoid cartilage
  • Type III a - cleft extending through the cricoid cartilage but not into the trachea
  • Type III b - cleft extending through the cricoid cartilage and into the cervical trachea
  • Type IV - cleft extending into the thoracic trachea, potentially down to the carina

Lobar Emphysema (Overinflated Lung)

Congenital lobar emphysema
  1. There is an overinflated left upper lobe
  2. There is a collapsed lower lobe
  3. The left lung is herniating across the mediastinum

Congenital Diaphragmatic Hernia

Human congenital diaphragmatic hernia[1]
Normal Adult Diaphragm

Really a musculoskeletal abnormality, but included here due to the associated respiratory effects. Failure of the pleuroperitoneal foramen (foramen of Bochdalek) to close allows viscera into thorax, most common (80-85%) on the left side of diaphragm. Intestine, stomach or spleen can enter the pleural cavity, compressing the lung.

Congenital diaphragmatic hernia 01.jpg
Left posterolateral diaphragmatic hernia[10]
  • A - Plain X-ray of the thorax of a newborn with CDH. There are bowel loops into the left hemi-thorax, the mediastinum is displaced to the contralateral side and the space occupied by the lung is reduced.
  • B - small bowel loops can be seen entering the thorax through the orifice.
  • C - seen after reducing the contents of the hernia.
  • D - At autopsy, extreme left lung hypoplasia and less severe right lung hypoplasia were discovered.

Australian Statistics

A recent Western Australian study[11] of congenital diaphragmatic hernia (CDH) outcomes showed:

  • 35% of live-born infants died before referral or transport.
  • population of infants reaching center represented only 40% of the total cases
  • 92% percent of postoperative infants survived beyond 1 year of age
  • 80% of infants who reached the surgical referral center
  • only 52% of live-born infants, 32% of all cases, and 16% of all prenatally diagnosed cases survived.
  • the overall mortality rate for this condition remains high
  • 33% of all cases of CDH and 49% of prenatally diagnosed fetuses underwent elective termination of pregnancy
  • the number of fetal terminations confounds the accurate assessment of the true outcomes of this condition

Links: Musculoskeletal System - Abnormalities | GeneReviews

Azygos Lobe

Lung azygos lobe in the adult.

Lung Azygos Lobe 02.jpg

Common anatomical variation occurring in about 0.5% of the population. The right lung upper lobe expands either side of the posterior cardinal. There is also some course variability of the phrenic nerve in the presence of an azygos lobe.

Congenital Laryngeal Webs

Laryngeal abnormality due to embryonic (week 10) incomplete recanalization of the laryngotracheal tube during the fetal period. Rare abnormality occuring mainly at the level of the vocal folds (glottis).

Meconium Aspiration Syndrome

Newborn X-ray Meconium aspiration syndrome

(MAS) Meconium is the gastrointestinal contents that accumulate in the intestines during the fetal period. Fetal stress in the third trimester, prior to/at/ or during parturition (birth) can lead to premature meconium discharge into the amniotic fluid and sunsequent ingestion by the fetus and damage to respiratory function. Damage to placental vessels meconium myonecrosis may also occur.

  • meconium is formed from gut and associated organ secretions as well as cells and debris from the swallowed amniotic fluid.
  • Meconium accumulates during the fetal period in the large intestine (bowel). It can be described as being a generally dark colour (green black) , sticky and odourless.
  • Normally this meconium is defaecated (passed) postnatally over the first 48 hours and then transitional stools from day 4.
  • Abnormally this meconium is defaecated in utero, due to oxygen deprivation and other stresses. Premature discharge into the amniotic sac can lead to mixing with amniotic fluid and be reswallowed by the fetus. This is meconium aspiration syndrome and can damage both the developing lungs and placental vessels.

Australian Statistics

The following Australia and New Zealand (1995 - 2002) data is from a recent (2009) study, the epidemiology of meconium aspiration syndrome: incidence, risk factors, therapies, and outcome.[12]

  • Data were gathered on all of the infants in Australia and New Zealand who were intubated and mechanically ventilated with a primary diagnosis of MAS (MASINT) between 1995 and 2002, inclusive.
  • MASINT occurred in 1061 of 2,490,862 live births (0.43 of 1000), with a decrease in incidence from 1995 to 2002.
  • A higher risk of MASINT was noted at advanced gestation, with 34% of cases born beyond 40 weeks, compared with 16% of infants without MAS.
  • Fetal distress requiring obstetric intervention was noted in 51% of cases, and 42% were delivered by cesarean section.
  • There was a striking association between low 5-minute Apgar score and MASINT.
  • Risk of MASINT was higher where maternal ethnicity was Pacific Islander or indigenous Australian and was also increased after planned home birth.
  • Uptake of exogenous surfactant, high-frequency ventilation, and inhaled nitric oxide increased considerably during the study period, with >50% of infants receiving > or =1 of these therapies by 2002.
  • Risk of air leak was 9.6% overall, with an apparent reduction to 5.3% in 2001-2002.
  • The duration of intubation remained constant throughout the study period (median: 3 days), whereas duration of oxygen therapy and length of hospital stay increased.
  • Death related to MAS occurred in 24 infants (2.5% of the MASINT cohort; 0.96 per 100,000 live births).

Newborn Respiratory Distress Syndrome

(Hyaline Membrane Disease) medline plus | eMedicine

Surfactant deficiency in immature lungs leads to:

  1. alveolar instability and collapse
  2. capillary leak edema
  3. hyaline membrane formation

Surfactant Metabolism

(pulmonary surfactant metabolism dysfunctions, surfactant dysfunction disorders) For review of genetic disorders of surfactant dysfunction[13]

Mutations in the genes encoding:

  • surfactant protein B (SP-B)
  • surfactant protein C ( SP-C)
  • phospholipid transporter ABCA3

Bronchopulmonary Dysplasia

A chronic lung disease which can occur following premature birth and related lung injury. The definition of bronchopulmonary dysplasia (BPD) has in recent years changed from a severe lung injury and associated repair, to more of a disruption of lung growth in older infants.[14]

Most infants who develop BPD are born more than 10 weeks before their due dates, weigh less than 1,000 grams (about 2 pounds) at birth, and have breathing problems. Infections that occur before or shortly after birth also can contribute to BPD.

Links: NIH - NHLBI

Lung Agenesis

Agenesis of left lung.jpg

Agenesis of Left lung (X Ray)[15]

Prevalence, including the bilateral and unilateral forms, is 0.5-1.0 per 10,000 live births.

Cystic Fibrosis

UK deaths from cystic fibrosis [16]

Cystic Fibrosis (CF) is a serious genetic disease due to abnormal chloride channel synthesis (cystic fibrosis transmembrane conductance regulator, CFTR), the impact occurs postnatally. Mucus accumulates mainly in the passages of the lungs and in the pancreas.

Links: PubMed Health | OMIM | USA National Heart Lung and Blood Institute | Cystic Fibrosis Australia


List of respiratory related abnormalities Respiratory and Diaphragmatic Hernia.


  1. 1.0 1.1 Jason C Fisher, Lawrence Bodenstein Computer simulation analysis of normal and abnormal development of the mammalian diaphragm. Theor Biol Med Model: 2006, 3;9 PubMed 16483386 | Theor Biol Med Model.
  2. J I Hagadorn, E A Brownell, K W Herbst, J M Trzaski, S Neff, B T Campbell Trends in treatment and in-hospital mortality for neonates with congenital diaphragmatic hernia. J Perinatol: 2015; PubMed 25950919
  3. Lynne McFetridge, Aoife McMorrow, Patrick J Morrison, Michael D Shields Surfactant Metabolism Dysfunction and Childhood Interstitial Lung Disease (chILD). Ulster Med J: 2009, 78(1);7-9 PubMed 19252722
  4. Chong Jai Kim, Roberto Romero, Juan Pedro Kusanovic, Wonsuk Yoo, Zhong Dong, Vanessa Topping, Francesca Gotsch, Bo Hyun Yoon, Je Geun Chi, Jung-Sun Kim The frequency, clinical significance, and pathological features of chronic chorioamnionitis: a lesion associated with spontaneous preterm birth. Mod. Pathol.: 2010, 23(7);1000-11 PubMed 20348884 | Mod Pathol.
  5. A H Jobe, M Ikegami Antenatal infection/inflammation and postnatal lung maturation and injury. Respir. Res.: 2001, 2(1);27-32 PubMed 11686862 | PMC59566 | Respir Res.
  6. R L Goldenberg, J C Hauth, W W Andrews Intrauterine infection and preterm delivery. N. Engl. J. Med.: 2000, 342(20);1500-7 PubMed 10816189
  7. 7.0 7.1 Nicolas Leboulanger, Eréa-Noël Garabédian Laryngo-tracheo-oesophageal clefts. Orphanet J Rare Dis: 2011, 6;81 PubMed 22151899
  8. B Benjamin, A Inglis Minor congenital laryngeal clefts: diagnosis and classification. Ann. Otol. Rhinol. Laryngol.: 1989, 98(6);417-20 PubMed 2729823
  9. Kishore Sandu, Philippe Monnier Endoscopic laryngotracheal cleft repair without tracheotomy or intubation. Laryngoscope: 2006, 116(4);630-4 PubMed 16585871
  10. Juan A Tovar Congenital diaphragmatic hernia. Orphanet J Rare Dis: 2012, 7;1 PubMed 22214468 | Orphanet J Rare Dis.
  11. Joanne Colvin, Carol Bower, Jan E Dickinson, Jenni Sokol Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia. Pediatrics: 2005, 116(3);e356-63 PubMed 16140678
  12. Peter A Dargaville, Beverley Copnell, Australian and New Zealand Neonatal Network The epidemiology of meconium aspiration syndrome: incidence, risk factors, therapies, and outcome. Pediatrics: 2006, 117(5);1712-21 PubMed 16651329
  13. Susan E Wert, Jeffrey A Whitsett, Lawrence M Nogee Genetic disorders of surfactant dysfunction. Pediatr. Dev. Pathol.: 2009, 12(4);253-74 PubMed 19220077
  14. Kathleen M Deakins Bronchopulmonary dysplasia. Respir Care: 2009, 54(9);1252-62 PubMed 19712501
  15. | J Bras Pneumol.
  16. PMID 21862532 | BMJ


Annick Clement, Nadia Nathan, Ralph Epaud, Brigitte Fauroux, Harriet Corvol Interstitial lung diseases in children. Orphanet J Rare Dis: 2010, 5;22 PubMed 20727133

Bernard Thébaud, Steven H Abman Bronchopulmonary dysplasia: where have all the vessels gone? Roles of angiogenic growth factors in chronic lung disease. Am. J. Respir. Crit. Care Med.: 2007, 175(10);978-85 PubMed 17272782

Dominik Hartl, Matthias Griese Interstitial lung disease in children -- genetic background and associated phenotypes. Respir. Res.: 2005, 6;32 PubMed 15819986


Jonathan M Whitfield, Dianne S Charsha, Arpitha Chiruvolu Prevention of meconium aspiration syndrome: an update and the Baylor experience. Proc (Bayl Univ Med Cent): 2009, 22(2);128-31 PubMed 19381312

B Sztanó, A Torkos, L Rovó The combined endoscopic management of congenital laryngeal web. Int. J. Pediatr. Otorhinolaryngol.: 2010, 74(2);212-5 PubMed 20004027

E H Shannon THE AZYGOS LOBE OF THE LUNG. Can Med Assoc J: 1931, 24(4);498-500 PubMed 20318245

J Mata, J Cáceres, X Alegret, P Coscojuela, J A De Marcos Imaging of the azygos lobe: normal anatomy and variations. AJR Am J Roentgenol: 1991, 156(5);931-7 PubMed 2017954

J M Speckman, G Gamsu, W R Webb Alterations in CT mediastinal anatomy produced by an azygos lobe. AJR Am J Roentgenol: 1981, 137(1);47-50 PubMed 6787889

Fritz J Baumgartner Thoracoscopic surgery for hyperhidrosis in the presence of congenital azygous lobe and its suspensory web. Tex Heart Inst J: 2009, 36(1);44-7 PubMed 19436785

Search Pubmed

Search Pubmed: Respiratory System Developmental Abnormalities | Tracheoesophageal Fistula | Bronchopulmonary Dysplasia | Congenital Laryngeal Webs | Hyaline Membrane Disease | Meconium Aspiration Syndrome

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