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The following term was not found in PubMed: radius-anogenital
Page 1
Clinical Management of Congenital Hypogonadotropic Hypogonadism.
Young J, Xu C, Papadakis GE, Acierno JS, Maione L, Hietamäki J, Raivio T, Pitteloud N. Young J, et al. Endocr Rev. 2019 Apr 1;40(2):669-710. doi: 10.1210/er.2018-00116. Endocr Rev. 2019. PMID: 30698671 Review.
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results from the failure of the normal episodic GnRH secretion, leading to delayed puberty and infertility. CHH can be associated with an absent sense of smell, also termed Kallmann syndrome, or …
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results from the failure of the normal episodic GnRH secretion, leadi …
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A. Yazdani R, et al. Clin Immunol. 2019 Jan;198:19-30. doi: 10.1016/j.clim.2018.11.007. Epub 2018 Nov 13. Clin Immunol. 2019. PMID: 30439505 Review.
Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels of serum IgM. ...Based on the underlying genetic defect, the affected patients present a va …
Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by low or absent levels of se …
Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org; Prabhu M, Kuller JA, Biggio JR. Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, et al. Am J Obstet Gynecol. 2021 Oct;225(4):B2-B15. doi: 10.1016/j.ajog.2021.06.079. Epub 2021 Jun 23. Am J Obstet Gynecol. 2021. PMID: 34171388
In this document, "isolated" is used to describe a soft marker that has been identified in the absence of any fetal structural anomaly, growth restriction, or additional soft marker following a detailed obstetrical ultrasound examination. ...The Society for Maternal-Fetal …
In this document, "isolated" is used to describe a soft marker that has been identified in the absence of any fetal structural anomaly …
Diagnosis and management of Abernethy syndrome.
Castro Rodríguez J, Rodríguez Perálvarez ML, Montero-Álvarez JL. Castro Rodríguez J, et al. Rev Esp Enferm Dig. 2024 Jan;116(1):1-6. doi: 10.17235/reed.2023.9781/2023. Rev Esp Enferm Dig. 2024. PMID: 37522317 Free article.
Abernethy syndrome (AS or extrahepatic portosystemic shunt) is an uncommon congenital malformation consisting of agenesis or hypoplasia of the portal vein (PV) in such a way that splanchnic venous blood drains directly into the systemic circulation through aberrant communi …
Abernethy syndrome (AS or extrahepatic portosystemic shunt) is an uncommon congenital malformation consisting of agenesis or hypoplas …
Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.
Collins C, Sharpe E, Silber A, Kulke S, Hsieh EWY. Collins C, et al. J Clin Immunol. 2021 Jul;41(5):881-895. doi: 10.1007/s10875-021-01059-7. Epub 2021 May 13. J Clin Immunol. 2021. PMID: 33987750 Free PMC article. Review.
Congenital athymia is an ultra-rare disease characterized by the absence of a functioning thymus. It is associated with several genetic and syndromic disorders including FOXN1 deficiency, 22q11.2 deletion, CHARGE Syndrome (Coloboma, Heart defects, Atresia of the nas …
Congenital athymia is an ultra-rare disease characterized by the absence of a functioning thymus. It is associated with several genetic and …
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Sousa SB, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169058 Review.
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chroma …
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused …
Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management.
Voutetakis A, Sertedaki A, Dacou-Voutetakis C. Voutetakis A, et al. Curr Opin Pediatr. 2016 Aug;28(4):545-50. doi: 10.1097/MOP.0000000000000378. Curr Opin Pediatr. 2016. PMID: 27386973 Review.
PURPOSE OF REVIEW: Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. ...
PURPOSE OF REVIEW: Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk, hypoplas …
Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management.
Mantelli F, Nardella C, Tiberi E, Sacchetti M, Bruscolini A, Lambiase A. Mantelli F, et al. Biomed Res Int. 2015;2015:805876. doi: 10.1155/2015/805876. Epub 2015 Sep 16. Biomed Res Int. 2015. PMID: 26451380 Free PMC article. Review.
Neurotrophic keratitis (NK) is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. ...Congenital corneal …
Neurotrophic keratitis (NK) is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characteriz …
Pericardial disease: diagnosis and management.
Khandaker MH, Espinosa RE, Nishimura RA, Sinak LJ, Hayes SN, Melduni RM, Oh JK. Khandaker MH, et al. Mayo Clin Proc. 2010 Jun;85(6):572-93. doi: 10.4065/mcp.2010.0046. Mayo Clin Proc. 2010. PMID: 20511488 Free PMC article. Review.
Patients can subsequently develop chronic or recurrent pericarditis. Structural abnormalities including congenitally absent pericardium and pericardial cysts are usually asymptomatic and are uncommon. Clinicians are often faced with several diagnostic and management …
Patients can subsequently develop chronic or recurrent pericarditis. Structural abnormalities including congenitally absent pe …
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D. Miroševič Š, et al. Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564. Int J Mol Sci. 2022. PMID: 36293418 Free PMC article. Review.
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. ...The study showed wide genotypic and phenotypic variability in patients with CTNNB1 Syndrome. The most comm …
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed o …
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