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Quoted phrase not found in phrase index: "Thoracic dysostosis, isolated"
Page 1
Familial Poland anomaly revisited.
Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG. Baban A, et al. Am J Med Genet A. 2012 Jan;158A(1):140-9. doi: 10.1002/ajmg.a.34370. Epub 2011 Nov 22. Am J Med Genet A. 2012. PMID: 22110015 Review.
Poland anomaly (PA) is a pectoral muscle hypoplasia/aplasia variably associated with ipsilateral thoracic (TA) and/or upper limb anomalies (ULA). PA is usually sporadic and sometimes familial, making recurrence risk an issue in genetic counseling. ...
Poland anomaly (PA) is a pectoral muscle hypoplasia/aplasia variably associated with ipsilateral thoracic (TA) and/or upper limb anom …
Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.
Glass GE, Mohammedali S, Sivakumar B, Stotland MA, Abdulkader F, Prosser DO, Love DR. Glass GE, et al. BMC Pediatr. 2022 Dec 30;22(1):745. doi: 10.1186/s12887-022-03803-3. BMC Pediatr. 2022. PMID: 36581828 Free PMC article. Review.
None implicated the PLXND1 gene which has previously been implicated in isolated Mobius syndrome. CONCLUSIONS: This report provides further evidence in support of a role for PLXND1 mutations in Mobius syndrome and reasserts the nosological link between Mobius and Poland's …
None implicated the PLXND1 gene which has previously been implicated in isolated Mobius syndrome. CONCLUSIONS: This report provides f …
Isolated thoracic dysostosis.
Rabushka SE, Love L, Kadison HI. Rabushka SE, et al. Radiology. 1973 Jan;106(1):161-5. doi: 10.1148/106.1.161. Radiology. 1973. PMID: 4682713 No abstract available.
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.
Saettini F, Herriot R, Prada E, Nizon M, Zama D, Marzollo A, Romaniouk I, Lougaris V, Cortesi M, Morreale A, Kosaki R, Cardinale F, Ricci S, Domínguez-Garrido E, Montin D, Vincent M, Milani D, Biondi A, Gervasini C, Badolato R. Saettini F, et al. J Clin Immunol. 2020 Aug;40(6):851-860. doi: 10.1007/s10875-020-00808-4. Epub 2020 Jun 27. J Clin Immunol. 2020. PMID: 32594341
Although recurrent infections in Rubinstein-Taybi syndrome (RSTS) are common, and probably multifactorial, immunological abnormalities have not been extensively described with only isolated cases or small case series of immune deficiency and dysregulation having been repor …
Although recurrent infections in Rubinstein-Taybi syndrome (RSTS) are common, and probably multifactorial, immunological abnormalities have …
Eventration of the diaphragm and associations.
Kulkarni ML, Sneharoopa B, Vani HN, Nawaz S, Kannan B, Kulkarni PM. Kulkarni ML, et al. Indian J Pediatr. 2007 Feb;74(2):202-5. doi: 10.1007/s12098-007-0018-x. Indian J Pediatr. 2007. PMID: 17337837
Eventration of the diaphragm, most often an isolated entity and detected incidentally, has been known to be associated with several genetic syndromes. ...
Eventration of the diaphragm, most often an isolated entity and detected incidentally, has been known to be associated with several g …
A newborn with Poland anomaly and liver ectopy: an unusual association with important prognostic implications.
Chalak LF, Parham DM. Chalak LF, et al. Pediatr Dev Pathol. 2007 Mar-Apr;10(2):134-7. doi: 10.2350/06-04-00801.1. Pediatr Dev Pathol. 2007. PMID: 17378683
Poland syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand deformity and can include a spectrum of anomalies from a complete absence of the pectoralis major and minor, amastia, severe rib abnormalities, and absence of the h …
Poland syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand deformity and can includ …