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Thoracic dysostosis, isolated

MedGen UID:
396080
•Concept ID:
C1861204
•
Disease or Syndrome
Synonym: Thoracic Dysostosis, Isolated
 
Monarch Initiative: MONDO:0008549
OMIM®: 187750

Clinical features

From HPO
Short ribs
MedGen UID:
98094
•Concept ID:
C0426817
•
Finding
Reduced rib length.
See: Feature record | Search on this feature
Bell-shaped thorax
MedGen UID:
351320
•Concept ID:
C1865186
•
Finding
The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.
See: Feature record | Search on this feature
Pectus excavatum
MedGen UID:
781174
•Concept ID:
C2051831
•
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
See: Feature record | Search on this feature
Recurrent respiratory infections
MedGen UID:
812812
•Concept ID:
C3806482
•
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

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
J Clin Immunol 2020 Aug;40(6):851-860. Epub 2020 Jun 27 doi: 10.1007/s10875-020-00808-4. PMID: 32594341
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):64-72. Epub 2020 Feb 12 doi: 10.1002/ajmg.c.31774. PMID: 32049433
Anesthetic management for thoracic surgery in Rubinstein-Taybi syndrome.
Blazquez E, Narváez D, Fernandez-Lopez A, Garcia-Aparicio L
Rev Esp Anestesiol Reanim 2016 Jun-Jul;63(6):361-4. Epub 2016 Apr 6 doi: 10.1016/j.redar.2016.02.004. PMID: 27062171
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
Am J Med Genet A 2012 Jan;158A(1):140-9. Epub 2011 Nov 22 doi: 10.1002/ajmg.a.34370. PMID: 22110015
Eventration of the diaphragm and associations.
Kulkarni ML, Sneharoopa B, Vani HN, Nawaz S, Kannan B, Kulkarni PM
Indian J Pediatr 2007 Feb;74(2):202-5. doi: 10.1007/s12098-007-0018-x. PMID: 17337837

Diagnosis

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
BMC Pediatr 2022 Dec 30;22(1):745. doi: 10.1186/s12887-022-03803-3. PMID: 36581828Free PMC Article
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
J Clin Immunol 2020 Aug;40(6):851-860. Epub 2020 Jun 27 doi: 10.1007/s10875-020-00808-4. PMID: 32594341
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
Am J Med Genet A 2012 Jan;158A(1):140-9. Epub 2011 Nov 22 doi: 10.1002/ajmg.a.34370. PMID: 22110015
Eventration of the diaphragm and associations.
Kulkarni ML, Sneharoopa B, Vani HN, Nawaz S, Kannan B, Kulkarni PM
Indian J Pediatr 2007 Feb;74(2):202-5. doi: 10.1007/s12098-007-0018-x. PMID: 17337837
Isolated thoracic dysostosis.
Rabushka SE, Love L, Kadison HI
Radiology 1973 Jan;106(1):161-5. doi: 10.1148/106.1.161. PMID: 4682713

Prognosis

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
J Clin Immunol 2020 Aug;40(6):851-860. Epub 2020 Jun 27 doi: 10.1007/s10875-020-00808-4. PMID: 32594341
A newborn with Poland anomaly and liver ectopy: an unusual association with important prognostic implications.
Chalak LF, Parham DM
Pediatr Dev Pathol 2007 Mar-Apr;10(2):134-7. doi: 10.2350/06-04-00801.1. PMID: 17378683
Eventration of the diaphragm and associations.
Kulkarni ML, Sneharoopa B, Vani HN, Nawaz S, Kannan B, Kulkarni PM
Indian J Pediatr 2007 Feb;74(2):202-5. doi: 10.1007/s12098-007-0018-x. PMID: 17337837

Clinical prediction guides

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
J Clin Immunol 2020 Aug;40(6):851-860. Epub 2020 Jun 27 doi: 10.1007/s10875-020-00808-4. PMID: 32594341

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