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Lethal short-trunk short stature

MedGen UID:: 866799
•Concept ID:: C4021151
•: Congenital Abnormality

Synonym:	Lethal short-trunk dwarfism

HPO:	HP:0011404

Definition

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLethal short-trunk short stature

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the skeletal system
    - Abnormal skeletal morphology
      - Abnormal axial skeleton morphology
        Disproportionate short-trunk short stature
        Lethal short-trunk short stature

Recent clinical studies

Etiology

Achondrogenesis: new nosology with evidence of genetic heterogeneity.

Whitley CB, Gorlin RJ
Radiology 1983 Sep;148(3):693-8. doi: 10.1148/radiology.148.3.6878687. PMID: 6878687

Diagnosis

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

Simsek-Kiper PO, Kosukcu C, Akgun-Dogan O, Gocmen R, Utine GE, Soyer T, Korkmaz-Toygar A, Nishimura G, Alikasifoglu M, Boduroglu K
Eur J Med Genet 2019 Jan;62(1):21-26. Epub 2018 Apr 25 doi: 10.1016/j.ejmg.2018.04.013. PMID: 29704686

Prognosis

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

Simsek-Kiper PO, Kosukcu C, Akgun-Dogan O, Gocmen R, Utine GE, Soyer T, Korkmaz-Toygar A, Nishimura G, Alikasifoglu M, Boduroglu K
Eur J Med Genet 2019 Jan;62(1):21-26. Epub 2018 Apr 25 doi: 10.1016/j.ejmg.2018.04.013. PMID: 29704686

Clinical prediction guides

Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.

Mortier GR, Lachman RS, Bocian M, Rimoin DL
Am J Med Genet 1996 Feb 2;61(4):310-9. doi: 10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y. PMID: 8834041

Achondrogenesis: new nosology with evidence of genetic heterogeneity.

Whitley CB, Gorlin RJ
Radiology 1983 Sep;148(3):693-8. doi: 10.1148/radiology.148.3.6878687. PMID: 6878687

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