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Short stature and advanced bone age

MedGen UID:
1625310
•Concept ID:
C4540541
•
Finding
Synonym: SHORT STATURE AND ADVANCED BONE AGE
 
OMIM®: 155760

Professional guidelines

PubMed

Aggrecanopathies highlight the need for genetic evaluation of ISS children.
Nilsson O
Eur J Endocrinol 2020 Aug;183(2):C9-C10. doi: 10.1530/EJE-20-0420. PMID: 32413843

Recent clinical studies

Etiology

Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes.
Ye X, Fang D, He Y, Yan H, Qiu W, Sun Y
Eur J Med Genet 2020 Dec;63(12):104074. Epub 2020 Sep 24 doi: 10.1016/j.ejmg.2020.104074. PMID: 32980524

Diagnosis

Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes.
Ye X, Fang D, He Y, Yan H, Qiu W, Sun Y
Eur J Med Genet 2020 Dec;63(12):104074. Epub 2020 Sep 24 doi: 10.1016/j.ejmg.2020.104074. PMID: 32980524
Aggrecanopathies highlight the need for genetic evaluation of ISS children.
Nilsson O
Eur J Endocrinol 2020 Aug;183(2):C9-C10. doi: 10.1530/EJE-20-0420. PMID: 32413843
Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
Quintos JB, Guo MH, Dauber A
J Pediatr Endocrinol Metab 2015 Jul;28(7-8):927-32. doi: 10.1515/jpem-2014-0450. PMID: 25741789Free PMC Article

Prognosis

Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
Quintos JB, Guo MH, Dauber A
J Pediatr Endocrinol Metab 2015 Jul;28(7-8):927-32. doi: 10.1515/jpem-2014-0450. PMID: 25741789Free PMC Article

Clinical prediction guides

Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
Quintos JB, Guo MH, Dauber A
J Pediatr Endocrinol Metab 2015 Jul;28(7-8):927-32. doi: 10.1515/jpem-2014-0450. PMID: 25741789Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

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    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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