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Aplasia/hypoplasia involving the skeleton

MedGen UID:
870159
•Concept ID:
C4024592
•
Finding
Synonyms: Absent/small skeleton; Absent/underdeveloped skeleton
 
HPO: HP:0009115

Definition

Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia/hypoplasia involving the skeleton

Recent clinical studies

Etiology

Human syndromes with congenital patellar anomalies and the underlying gene defects.
Bongers EM, van Kampen A, van Bokhoven H, Knoers NV
Clin Genet 2005 Oct;68(4):302-19. doi: 10.1111/j.1399-0004.2005.00508.x. PMID: 16143015

Diagnosis

Hemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Italy).
Viciano J, D'Anastasio R
Arch Oral Biol 2018 Jul;91:23-34. Epub 2018 Apr 6 doi: 10.1016/j.archoralbio.2018.04.004. PMID: 29653314
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O
Eur J Hum Genet 2017 May;25(5):646-650. Epub 2017 Feb 15 doi: 10.1038/ejhg.2017.5. PMID: 28198391Free PMC Article
Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia.
Bernardi P, Graziadio C, Rosa RF, Dall'Agnol L, Zen PR, Paskulin GA
Am J Med Genet A 2009 Jul;149A(7):1532-8. doi: 10.1002/ajmg.a.32943. PMID: 19533791

Prognosis

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O
Eur J Hum Genet 2017 May;25(5):646-650. Epub 2017 Feb 15 doi: 10.1038/ejhg.2017.5. PMID: 28198391Free PMC Article

Clinical prediction guides

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O
Eur J Hum Genet 2017 May;25(5):646-650. Epub 2017 Feb 15 doi: 10.1038/ejhg.2017.5. PMID: 28198391Free PMC Article

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