Atresia

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Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent. [1]

Contents

Types

Anotia

Anotia is characterized by the complete absence of the ear and is extremely rare. This condition may affect one or both ears, though one missing ear is more common. Anotia is also linked to conductive hearing loss, a condition in which sound waves do not travel well through the ear and sound is not efficiently conducted from the outer ear canal to the eardrum. Anotia has no known cause. An associated syndrome, such as Treacher Collins or Goldenhar syndrome, may affect up to 40% of patients. Anotia is typically diagnosed through a physical examination at birth. Prenatal ultrasounds may help with early detection. Total ear reconstruction is the standard treatment for Anotia. [2]

Biliary atresia

Biliary atresia (BA) is a rare disease marked by an unknown-origin biliary obstruction that manifests in the neonatal period. The classic clinical triad of Biliary atresia is acholic stools, and dark urine, jaundice, and hepatomegaly. The clinical manifestations are used to make the diagnosis, which is supported by liver ultrasonography, cholangiography, and a liver biopsy. [3] The initial treatment is surgical, with the obliterated extrahepatic bile duct resected and a hepatoportoenterostomy created. [4]

Bronchial atresia

Bronchial atresia is a rare congenital disease characterized by segmental or lobar emphysema and, in some cases, mucoid impaction. The exact cause of bronchial atresia is unknown; the lobar bronchi, subsegmental bronchi, and distal bronchioles develop in the fifth, sixth, and sixteenth weeks of fetal development, respectively. Bronchial atresia is frequently discovered incidentally because it is asymptomatic. Recurrent pulmonary infections are among the most frequent clinical manifestations in symptomatic patients. Because such benign disease frequently affects young patients, minimally invasive surgery, such as thoracoscopic surgery, is advised. [5]

Choanal atresia

Choanal atresia (CA) is a rare but well-known condition marked by the anatomical closure of the posterior choanae in the nasal cavity. CA presents clinically in a variety of ways, ranging from acute airway obstruction to chronic recurrent sinusitis, depending on whether it is unilateral, bilateral, or paired with other coexisting airway abnormalities, as is common in individuals who have CHARGE syndrome and craniofacial anomalies. The initial clinical evaluation consists of inserting a six or eight Fr suction catheter through the nostrils, performing a methylene blue dye test, a cotton wisp test, and a laryngeal mirror test. In patients with proper nasal preparation, a CT of the sinuses with 2-5 mm cuts provides a definitive evaluation. [6]

Esophageal atresia

Esophageal atresia (EA) is a rare congenital malformation characterized by a lack of continuity between the lower and upper esophageal pouches, often associated with tracheoesophageal fistula. [7] Esophageal atresia with or without tracheoesophageal fistula (TEF) is the most common birth defect of the esophagus. The diagnosis of EA usually occurs within the first 24 hours of life, but it can be made antenatally or later. [8] Although environmental effects and genetic factors have been documented, the causes of EA remain largely unknown. [9] Treatment is surgical and includes reconstruction of the continuity of the esophagus or replacement by other organs. [10]

Follicular atresia

Follicular atresia refers to the process in which a follicle fails to develop, thus preventing it from ovulating and releasing an egg. [11] It is a normal, naturally occurring progression that occurs as mammalian ovaries age. Approximately 1% of mammalian follicles in ovaries undergo ovulation and the remaining 99% of follicles go through follicular atresia as they cycle through the growth phases. In summary, follicular atresia is a process that leads to the follicular loss and loss of oocytes, and any disturbance or loss of functionality of this process can lead to many other conditions. [12]

Imperforate anus

Imperforate anus is a somewhat common anomaly, with a newborn incidence ranging from 1: 1500 to 1:5000. There have been isolated cases of imperforate anus, but this condition is more commonly found as one among numerous anomalies. Imperforate anus is usually not diagnosed until after birth. There is no need for immediate reconstructive anorectal surgery. However, prompt evaluation is critical, and urgent decompressive surgery may be required. [13]

Intestinal atresia

With an incidence of 1 in 5,000 newborns, intestinal atresias are one of the most common causes of neonatal intestinal obstruction. The majority of cases are small intestinal atresia, while colonic atresias are uncommon. [14] There have been two main etiologies proposed for intestinal atresia: the first is a lack of re-vacuolization of the solid cord stage of intestinal development, and the second is a late intrauterine mesenteric vascular accident. Prenatal ultrasonography is the most reliable way to diagnose intestinal artesia. Pre-operative management includes primary resuscitation, correction of dehydration, and correction of electrolyte abnormalities. Kimura's diamond-shaped duodeno-duodenostomy is the most common surgical treatment. [15]

Microtia

Microtia is a congenital deformity where the auricle (external ear) is underdeveloped. A completely undeveloped pinna is referred to as anotia. Because microtia and anotia have the same origin, it can be referred to as microtia-anotia. [16] Microtia can be unilateral (one side only) or bilateral (affecting both sides). Microtia occurs in 1 out of about 8,000–10,000 births. In unilateral microtia, the right ear is most commonly affected. It may occur as a complication of taking Accutane (isotretinoin) during pregnancy. [17]

Potter sequence

Potter's sequence is a fatal sporadic and autosomal recessive disorder with an incidence of 1 in 4000 births. Babies born with this defect are either stillborn or die very soon after birth. It primarily affects male babies and is associated with severe oligohydramnios, polycystic kidney, bilateral renal agenesis, and obstructive uropathy during the middle gestational weeks. The main defect in Potter's sequence is renal failure. Premature birth, breech presentation, atypical facial appearance, and limb malformations are other distinguishing characteristics. In most infants, severe respiratory insufficiency results in death. [18]

Renal agenesis

Renal agenesis occurs when the ureteric bud doesn't fuse with the metanephric blastema during embryogenesis, leading to the nephron and, in some cases, the ureter being absent. Unilateral renal agenesis occurs in 1 in 1000 live births, in contrast bilateral renal agenesis occurs in 1 in 3000 to 4000 pregnancies. Unilateral renal agenesis has a very good prognosis, whereas bilateral renal agenesis has a high rate of perinatal mortality and morbidity due to the lack of amniotic fluid, resulting in lethal pulmonary hypoplasia. The diagnosis of renal agenesis is usually made during a midgestation anatomy ultrasound examination. A genetic syndrome or other anomalies are linked to approximately 30% of cases of renal agenesis. [19]

Tricuspid atresia

Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve. [20] Therefore, there is an absence of right atrioventricular connection. [20] This leads to a hypoplastic (undersized) or absent right ventricle. This defect is contracted during prenatal development, when the heart does not finish developing. It causes the systemic circulation to be filled with relatively deoxygenated blood. The causes of tricuspid atresia are unknown. [21]

Vaginal atresia

Vaginal atresia is a birth defect that causes uterovaginal outflow tract obstruction. It happens when the urogenital sinus fails to form the caudal portion of the vagina. Fibrous tissue replaces the caudal portion of the vagina. Vaginal atresia is thought to affect one in every 5000-10,000 live female births. The anomaly is frequently undetected until adolescence, when primary amenorrhea or abdominal pain caused by an obstructed uterovaginal tract leads to a diagnostic evaluation. [22]

Related Research Articles

<span class="mw-page-title-main">Esophageal atresia</span> Congenital discontinuity of the oesophagus

Esophageal atresia is a congenital medical condition that affects the alimentary tract. It causes the esophagus to end in a blind-ended pouch rather than connecting normally to the stomach. It comprises a variety of congenital anatomic defects that are caused by an abnormal embryological development of the esophagus. It is characterized anatomically by a congenital obstruction of the esophagus with interruption of the continuity of the esophageal wall.

<span class="mw-page-title-main">Anotia</span> Medical condition

Anotia describes a rare congenital deformity that involves the complete absence of the pinna, the outer projected portion of the ear, and narrowing or absence of the ear canal. This contrasts with microtia, in which a small part of the pinna is present. Anotia and microtia may occur unilaterally or bilaterally. This deformity results in conductive hearing loss, deafness.

<span class="mw-page-title-main">Fontan procedure</span> Surgical procedure used in children with univentricular hearts

The Fontan procedure or Fontan–Kreutzer procedure is a palliative surgical procedure used in children with univentricular hearts. It involves diverting the venous blood from the inferior vena cava (IVC) and superior vena cava (SVC) to the pulmonary arteries. The procedure varies for differing congenital heart pathologies. For example in tricuspid atresia, the procedure can be done where the blood does not pass through the morphologic right ventricle; i.e., the systemic and pulmonary circulations are placed in series with the functional single ventricle. Whereas in hypoplastic left heart syndrome, the heart is more reliant on the more functional right ventricle to provide blood flow to the systemic circulation. The procedure was initially performed in 1968 by Francis Fontan and Eugene Baudet from Bordeaux, France, published in 1971, simultaneously described in 1971 by Guillermo Kreutzer from Buenos Aires, Argentina, and finally published in 1973.

Situs ambiguus is a rare congenital defect in which the major visceral organs are distributed abnormally within the chest and abdomen. Clinically heterotaxy spectrum generally refers to any defect of Left-right asymmetry and arrangement of the visceral organs; however, classical heterotaxy requires multiple organs to be affected. This does not include the congenital defect situs inversus, which results when arrangement of all the organs in the abdomen and chest are mirrored, so the positions are opposite the normal placement. Situs inversus is the mirror image of situs solitus, which is normal asymmetric distribution of the abdominothoracic visceral organs. Situs ambiguus can also be subdivided into left-isomerism and right isomerism based on the defects observed in the spleen, lungs and atria of the heart.

Potter sequence is the atypical physical appearance of a baby due to oligohydramnios experienced when in the uterus. It includes clubbed feet, pulmonary hypoplasia and cranial anomalies related to the oligohydramnios. Oligohydramnios is the decrease in amniotic fluid volume sufficient to cause deformations in morphogenesis of the baby.

<span class="mw-page-title-main">Imperforate anus</span> Birth defect of malformed rectum

An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies which vary from fairly minor lesions to complex anomalies. The cause of ARMs is unknown; the genetic basis of these anomalies is very complex because of their anatomical variability. In 8% of patients, genetic factors are clearly associated with ARMs. Anorectal malformation in Currarino syndrome represents the only association for which the gene HLXB9 has been identified.

<span class="mw-page-title-main">Microtia</span> Medical condition

Microtia is a congenital deformity where the auricle is underdeveloped. A completely undeveloped pinna is referred to as anotia. Because microtia and anotia have the same origin, it can be referred to as microtia-anotia. Microtia can be unilateral or bilateral. Microtia occurs in 1 out of about 8,000–10,000 births. In unilateral microtia, the right ear is most commonly affected. It may occur as a complication of taking Accutane (isotretinoin) during pregnancy.

<span class="mw-page-title-main">Fraser syndrome</span> Recessive genetic disorder involving eye and genital abnormalities

Fraser syndrome is an autosomal recessive congenital disorder, identified by several developmental anomalies. Fraser syndrome is named for the geneticist George R. Fraser, who first described the syndrome in 1962.

<span class="mw-page-title-main">VACTERL association</span> Medical condition

The VACTERL association refers to a recognized group of birth defects which tend to co-occur. This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.

<span class="mw-page-title-main">Goldenhar syndrome</span> Rare birth defect; incomplete development of the face on one side

Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids, preauricular skin tags and strabismus. It is associated with anomalous development of the first branchial arch and second branchial arch.

Hematocolpos is a medical condition in which the vagina is pooled with menstrual blood due to multiple factors leading to the blockage of menstrual blood flow. The medical definition of hematocolpos is 'an accumulation of blood within the vagina'. It is often caused by the combination of menstruation with an imperforate hymen. It is sometimes seen in Robinow syndrome, uterus didelphys, or other vaginal anomalies.

Tracheal agenesis is a rare birth defect with a prevalence of less than 1 in 50,000 in which the trachea fails to develop, resulting in an impaired communication between the larynx and the alveoli of the lungs. Although the defect is normally fatal, occasional cases have been reported of long-term survival following surgical intervention.

<span class="mw-page-title-main">13q deletion syndrome</span> Medical condition

13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a variety of organ systems. Because of the rarity of the disease in addition to the variations in the disease, the specific genes that cause this disease are unknown. This disease is also known as:

<span class="mw-page-title-main">Vaginal anomalies</span> Congenital defect; abnormal or absent vagina

Vaginal anomalies are abnormal structures that are formed during the prenatal development of the female reproductive system and are rare congenital defects that result in an abnormal or absent vagina.

<span class="mw-page-title-main">Strømme syndrome</span> Rare genetic condition involving intestinal atresia, eye abnormalities and microcephaly

Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia, eye abnormalities and microcephaly. The intestinal atresia is of the "apple-peel" type, in which the remaining intestine is twisted around its main artery. The front third of the eye is typically underdeveloped, and there is usually moderate developmental delay. Less common features include an atrial septal defect, increased muscle tone or skeletal abnormalities. Physical features may include short stature, large, low-set ears, a small jaw, a large mouth, epicanthic folds, or fine, sparse hair.

<span class="mw-page-title-main">Pulmonary agenesis</span> Medical condition

Pulmonary agenesis is an inborn lung underdevelopment that is rare and potentially lethal. The disorder is caused by a complete developmental arrest of the primitive lung during embryonic life, and it is often associated with other developmental defects. Bilateral and unilateral pulmonary agenesis are classified, depending on whether one side of the lung or both sides are affected. Bilateral pulmonary agenesis is lethal, while the mortality rate of unilateral pulmonary agenesis is higher than 50%. Depending on the severity, the symptom ranges from none to various respiratory complaints. It is detectable prenatally, however, its nonspecific clinical features act as the obstacle for diagnosing. The exact cause of pulmonary agenesis is still obscure. However, theories have been raised regarding the vascular, iatrogenic, viral and genetic causes of pulmonary agenesis in an attempt to explain the pathogenesis of the disorder. In most cases of pulmonary agenesis, surgical resection is performed to remove the malformed lobe or the entire defected lung of the patient depending on the severity of the respiratory impairment.

<span class="mw-page-title-main">Pulmonary atresia with ventricular septal defect</span> Type of congenital heart defect

Pulmonary atresia with ventricular septal defect is a rare birth defect characterized by pulmonary valve atresia occurring alongside a defect on the right ventricular outflow tract.

References

  1. ↑ Dorland's illustrated medical dictionary. Dorland, W. A. Newman (William Alexander Newman), 1864-1956. (32nd ed.). Philadelphia, PA: Saunders/Elsevier. 2012. p. 174. ISBN   978-1-4160-6257-8. OCLC   706780870.{{cite book}}: CS1 maint: others (link)
  2. ↑ "Anotia". Children's Hospital of Philadelphia. July 30, 2014. Retrieved November 14, 2023.
  3. ↑ Chardot, Christophe (July 26, 2006). "Biliary atresia". Orphanet Journal of Rare Diseases. Springer Science and Business Media LLC. 1 (1): 28. doi: 10.1186/1750-1172-1-28 . ISSN   1750-1172. PMC   1560371 . PMID   16872500.
  4. ↑ Schreiber, Richard A.; Kleinman, Ronald E. (2002). "Biliary Atresia". Journal of Pediatric Gastroenterology and Nutrition. Ovid Technologies (Wolters Kluwer Health). 35: 11–16. doi: 10.1097/00005176-200207001-00005 . ISSN   0277-2116. PMID   12151815 . Retrieved November 14, 2023.
  5. ↑ Wang, Yuqi; Dai, Weimin; Sun, Yu'e; Chu, Xiangyang; Yang, Bo; Zhao, Ming (2012). "Congenital Bronchial Atresia: Diagnosis and Treatment". International Journal of Medical Sciences. Ivyspring International Publisher. 9 (3): 207–212. doi: 10.7150/ijms.3690 . ISSN   1449-1907. PMC   3298011 . PMID   22408569.
  6. ↑ Kwong, Kelvin M. (June 9, 2015). "Current Updates on Choanal Atresia". Frontiers in Pediatrics. Frontiers Media SA. 3: 52. doi: 10.3389/fped.2015.00052 . ISSN   2296-2360. PMC   4460812 . PMID   26106591.
  7. ↑ Sfeir, R.; Michaud, L.; Salleron, J.; Gottrand, F. (2013). "Epidemiology of esophageal atresia". Diseases of the Esophagus. Oxford University Press (OUP). 26 (4): 354–355. doi: 10.1111/dote.12051 . ISSN   1120-8694. PMID   23679022.
  8. ↑ Pinheiro, Paulo Fernando Martins (2012). "Current knowledge on esophageal atresia". World Journal of Gastroenterology. Baishideng Publishing Group Inc. 18 (28): 3662–3672. doi: 10.3748/wjg.v18.i28.3662 . ISSN   1007-9327. PMC   3406418 . PMID   22851858.
  9. ↑ Sfeir, Rony; Bonnard, Arnaud; Khen-Dunlop, Naziha; Auber, Frederic; Gelas, Thomas; Michaud, Laurent; Podevin, Guillaume; Breton, Anne; Fouquet, Virginie; Piolat, Christian; Lemelle, Jean Louis; Petit, Thierry; Lavrand, Frederic; Becmeur, Francis; Polimerol, Marie Laurence; Michel, Jean Luc; Elbaz, Frederic; Habonimana, Eric; Allal, Hassan; Lopez, Emmanuel; Lardy, Hubert; Morineau, Marianne; Pelatan, Cécile; Merrot, Thierry; Delagausie, Pascal; de Vries, Philline; Levard, Guillaume; Buisson, Phillippe; Sapin, Emmanuel; Jaby, Olivier; Borderon, Corinne; Weil, Dominique; Gueiss, Stephane; Aubert, Didier; Echaieb, Anais; Fourcade, Laurent; Breaud, Jean; Laplace, Christophe; Pouzac, Myriam; Duhamel, Alain; Gottrand, Frederic (2013). "Esophageal atresia: Data from a national cohort". Journal of Pediatric Surgery. Elsevier BV. 48 (8): 1664–1669. doi:10.1016/j.jpedsurg.2013.03.075. ISSN   0022-3468. PMID   23932604. S2CID   34736647 . Retrieved November 14, 2023.
  10. ↑ Höllwarth, Michael E.; Till, Holger (2020). "Esophageal Atresia". Pediatric Surgery. Berlin, Heidelberg: Springer Berlin Heidelberg. pp. 661–680. doi:10.1007/978-3-662-43588-5_48. ISBN   978-3-662-43587-8 . Retrieved November 14, 2023.
  11. ↑ McGee EA, Horne J (2018). "Follicle Atresia". In Skinner MK (ed.). Encyclopedia of Reproduction (Second ed.). Oxford: Academic Press. pp. 87–91. doi:10.1016/b978-0-12-801238-3.64395-7. ISBN   978-0-12-815145-7.
  12. ↑ Liu Z, Li F, Xue J, Wang M, Lai S, Bao H, He S (August 2020). "Esculentoside A rescues granulosa cell apoptosis and folliculogenesis in mice with premature ovarian failure". Aging. 12 (17): 16951–16962. doi:10.18632/aging.103609. PMC   7521512 . PMID   32759462.
  13. ↑ Brantberg, A.; Blaas, H.-G. K.; Haugen, S. E.; Isaksen, C. V.; Eik-Nes, S. H. (November 23, 2006). "Imperforate anus: a relatively common anomaly rarely diagnosed prenatally". Ultrasound in Obstetrics & Gynecology. Wiley. 28 (7): 904–910. doi: 10.1002/uog.3862 . ISSN   0960-7692. PMID   17091530.
  14. ↑ Subbarayan, Devi (2015). "Histomorphological Features of Intestinal Atresia and its Clinical Correlation". Journal of Clinical and Diagnostic Research. JCDR Research and Publications. 9 (11): EC26–EC29. doi: 10.7860/jcdr/2015/13320.6838 . ISSN   2249-782X. PMC   4668418 . PMID   26674207.
  15. ↑ Gupta, Shilpi; Gupta, Rahul; Ghosh, Soumyodhriti; Gupta, Arun Kumar; Shukla, Arvind; Chaturvedi, Vinita; Mathur, Praveen (October 7, 2016). "Intestinal Atresia: Experience at a Busy Center of North-West India". Journal of Neonatal Surgery. 5 (4): 51. doi: 10.21699/jns.v5i4.405 . ISSN   2226-0439. PMC   5117274 . PMID   27896159.
  16. ↑ Online Mendelian Inheritance in Man (OMIM): Microtia-Anotia - 600674
  17. ↑ Pretest self assessment and review for the USMLE, pediatrics, 12th edition, question 84, general pediatrics
  18. ↑ Shastry, SrikanthM; Kolte, SachinS; Sanagapati, PandurangaR (2012). "Potter′s sequence". Journal of Clinical Neonatology. Medknow. 1 (3): 157–159. doi: 10.4103/2249-4847.101705 . ISSN   2249-4847. PMC   3762025 . PMID   24027716.
  19. ↑ Jelin, Angie (2021). "Renal agenesis". American Journal of Obstetrics and Gynecology. Elsevier BV. 225 (5): 28–30. doi: 10.1016/j.ajog.2021.06.048 . ISSN   0002-9378. PMID   34507792 . Retrieved November 14, 2023.
  20. 1 2 Murthy, Raghav; Nigro, John; Karamlou, Tara (2019-01-01), Ungerleider, Ross M.; Meliones, Jon N.; Nelson McMillan, Kristen; Cooper, David S. (eds.), "65 - Tricuspid Atresia", Critical Heart Disease in Infants and Children (Third Edition), Philadelphia: Elsevier, pp. 765–777.e3, doi:10.1016/b978-1-4557-0760-7.00065-6, ISBN   978-1-4557-0760-7, S2CID   214741527 , retrieved 2020-11-27
  21. ↑ "Congenital Heart Defects — Facts about Tricuspid Atresia | CDC". 2019-01-22.
  22. ↑ Saxena, Amulya K (November 9, 2021). "Vaginal Atresia: Practice Essentials, Anatomy, Pathophysiology". Medscape Reference. Retrieved November 14, 2023.
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