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Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop.
Oligohydramnios is a medical condition in pregnancy characterized by a deficiency of amniotic fluid, the fluid that surrounds the fetus in the abdomen, in the amniotic sac. It is typically diagnosed by ultrasound when the amniotic fluid index (AFI) measures less than 5 cm or when the single deepest pocket (SDP) of amniotic fluid measures less than 2 cm. Amniotic fluid is necessary to allow for normal fetal movement, lung development, and cushioning from uterine compression. Low amniotic fluid can be attributed to a maternal, fetal, placental or idiopathic cause and can result in poor fetal outcomes including death. The prognosis of the fetus is dependent on the etiology, gestational age at diagnosis, and the severity of the oligohydramnios.
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.
Stickler syndrome is a group of rare genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and skeletal problems. It was first studied and characterized by Gunnar B. Stickler in 1965.
Hydrops fetalis or hydrops foetalis is a condition in the fetus characterized by an accumulation of fluid, or edema, in at least two fetal compartments. By comparison, hydrops allantois or hydrops amnion is an accumulation of excessive fluid in the allantoic or amniotic space, respectively.
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.
Pierre Robin sequence is a congenital defect observed in humans which is characterized by facial abnormalities. The three main features are micrognathia, which causes glossoptosis, which in turn causes breathing problems due to obstruction of the upper airway. A wide, U-shaped cleft palate is commonly also present. PRS is not merely a syndrome, but rather it is a sequence—a series of specific developmental malformations which can be attributed to a single cause.
Zinc finger E-box-binding homeobox 2 is a protein that in humans is encoded by the ZEB2 gene. The ZEB2 protein is a transcription factor that plays a role in the transforming growth factor β (TGFβ) signaling pathways that are essential during early fetal development.
Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the FOXC1 gene.
The SCNN1G gene encodes for the γ subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1D.
Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.
AladinTM, also known as adracalin, is a nuclear envelope protein that in humans is encoded by the AAAS gene. It is named after the achalasia–addisonianism–alacrima syndrome which occurs when the gene is mutated.
Alpha-N-acetylgalactosaminidase is an enzyme that in humans is encoded by the NAGA gene.
The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.
Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.
Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.
Pulmonary hypoplasia is incomplete development of the lungs, resulting in an abnormally low number or small size of bronchopulmonary segments or alveoli. A congenital malformation, it most often occurs secondary to other fetal abnormalities that interfere with normal development of the lungs. Primary (idiopathic) pulmonary hypoplasia is rare and usually not associated with other maternal or fetal abnormalities.
Amnioinfusion is a method in which isotonic fluid is instilled into the uterine cavity.
Special AT-rich sequence-binding protein 2 (SATB2) also known as DNA-binding protein SATB2 is a protein that in humans is encoded by the SATB2 gene. SATB2 is a DNA-binding protein that specifically binds nuclear matrix attachment regions and is involved in transcriptional regulation and chromatin remodeling. SATB2 shows a restricted mode of expression and is expressed in certain cell nuclei. The SATB2 protein is mainly expressed in the epithelial cells of the colon and rectum, followed by the nuclei of neurons in the brain.
Twin anemia-polycythemia sequence (TAPS) is a form of chronic inter-twin transfusion. It is distinguished from classic twin-to-twin transfusion syndrome by differing red blood cell counts between the fetuses, a relative lack of symptoms and a lack of oligohydramnios or polyhydramnios among the fetuses.
References
- ↑ " sequence " at Dorland's Medical Dictionary
- ↑ Newbould MJ, Lendon M, Barson AJ (July 1994). "Oligohydramnios sequence: the spectrum of renal malformations". Br J Obstet Gynaecol. 101 (7): 598–604. doi:10.1111/j.1471-0528.1994.tb13650.x. PMID 8043538. S2CID 24525361.
- ↑ Piza JE, Northrop CC, Eavey RD (July 1996). "Neonatal mesenchyme temporal bone study: typical receding pattern versus increase in Potter's sequence". Laryngoscope. 106 (7): 856–64. doi:10.1097/00005537-199607000-00014. PMID 8667983. S2CID 35165505.
- ↑ Wagener S, Rayatt SS, Tatman AJ, Gornall P, Slator R (March 2003). "Management of infants with Pierre Robin sequence". Cleft Palate Craniofac. J. 40 (2): 180–5. doi:10.1597/1545-1569(2003)040<0180:MOIWPR>2.0.CO;2. PMID 12605525.
- ↑ Martínez-Frías ML, Czeizel AE, Rodríguez-Pinilla E, Bermejo E (January 1999). "Smoking during pregnancy and Poland sequence: results of a population-based registry and a case-control registry". Teratology. 59 (1): 35–8. doi:10.1002/(SICI)1096-9926(199901)59:1<35::AID-TERA8>3.0.CO;2-E. PMID 9988881.
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