Atresia
Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent.[1]
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
Bronchial atresia
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
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
Tricuspid atresia
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]
References
- )
- ^ "Anotia". Children's Hospital of Philadelphia. July 30, 2014. Retrieved November 14, 2023.
- PMID 16872500.
- PMID 12151815. Retrieved November 14, 2023.
- PMID 22408569.
- PMID 26106591.
- PMID 23679022.
- PMID 22851858.
- S2CID 34736647. Retrieved November 14, 2023.
- ISBN 978-3-662-43587-8. Retrieved November 14, 2023.
- ISBN 978-0-12-815145-7.
- PMID 32759462.
- PMID 17091530.
- PMID 26674207.
- PMID 27896159.
- ^ Online Mendelian Inheritance in Man (OMIM): Microtia-Anotia - 600674
- ^ Pretest self assessment and review for the USMLE, pediatrics, 12th edition, question 84, general pediatrics
- PMID 24027716.
- PMID 34507792. Retrieved November 14, 2023.
- ^ S2CID 214741527, retrieved 2020-11-27
- ^ "Congenital Heart Defects — Facts about Tricuspid Atresia | CDC". 2019-01-22.
- ^ Saxena, Amulya K (November 9, 2021). "Vaginal Atresia: Practice Essentials, Anatomy, Pathophysiology". Medscape Reference. Retrieved November 14, 2023.