U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Absent vertebral body mineralization

MedGen UID:
349746
Concept ID:
C1860191
Finding
HPO: HP:0004605

Definition

A lack of bone mineralization of the vertebral bodies. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Absent vertebral body mineralization

Conditions with this feature

Achondrogenesis type II
MedGen UID:
66315
Concept ID:
C0220685
Congenital Abnormality
Achondrogenesis type II (ACG2) is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. ACG2 is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010).

Recent clinical studies

Etiology

Cotti S, Huysseune A, Larionova D, Koppe W, Forlino A, Witten PE
Front Endocrinol (Lausanne) 2022;13:851879. Epub 2022 Feb 24 doi: 10.3389/fendo.2022.851879. PMID: 35282456Free PMC Article
Ward LM, Ma J, Lang B, Ho J, Alos N, Matzinger MA, Shenouda N, Lentle B, Jaremko JL, Wilson B, Stephure D, Stein R, Sbrocchi AM, Rodd C, Lewis V, Israels S, Grant RM, Fernandez CV, Dix DB, Cummings EA, Couch R, Cairney E, Barr R, Abish S, Atkinson SA, Hay J, Rauch F, Moher D, Siminoski K, Halton J; Steroid-Associated Osteoporosis in the Pediatric Population (STOPP) Consortium
J Bone Miner Res 2018 Aug;33(8):1435-1443. Epub 2018 May 22 doi: 10.1002/jbmr.3447. PMID: 29786884
Ma J, McMillan HJ, Karagüzel G, Goodin C, Wasson J, Matzinger MA, DesClouds P, Cram D, Page M, Konji VN, Lentle B, Ward LM
Osteoporos Int 2017 Feb;28(2):597-608. Epub 2016 Oct 24 doi: 10.1007/s00198-016-3774-5. PMID: 27774565
Iolascon G, Frizzi L, Bianco M, Gimigliano F, Palumbo V, Sinisi AM, Sinisi AA
Aging Clin Exp Res 2015 Oct;27 Suppl 1:S31-6. Epub 2015 Jul 23 doi: 10.1007/s40520-015-0421-5. PMID: 26201943

Diagnosis

Ma J, McMillan HJ, Karagüzel G, Goodin C, Wasson J, Matzinger MA, DesClouds P, Cram D, Page M, Konji VN, Lentle B, Ward LM
Osteoporos Int 2017 Feb;28(2):597-608. Epub 2016 Oct 24 doi: 10.1007/s00198-016-3774-5. PMID: 27774565
Iolascon G, Frizzi L, Bianco M, Gimigliano F, Palumbo V, Sinisi AM, Sinisi AA
Aging Clin Exp Res 2015 Oct;27 Suppl 1:S31-6. Epub 2015 Jul 23 doi: 10.1007/s40520-015-0421-5. PMID: 26201943

Therapy

Ma J, McMillan HJ, Karagüzel G, Goodin C, Wasson J, Matzinger MA, DesClouds P, Cram D, Page M, Konji VN, Lentle B, Ward LM
Osteoporos Int 2017 Feb;28(2):597-608. Epub 2016 Oct 24 doi: 10.1007/s00198-016-3774-5. PMID: 27774565
Iolascon G, Frizzi L, Bianco M, Gimigliano F, Palumbo V, Sinisi AM, Sinisi AA
Aging Clin Exp Res 2015 Oct;27 Suppl 1:S31-6. Epub 2015 Jul 23 doi: 10.1007/s40520-015-0421-5. PMID: 26201943

Prognosis

Ward LM, Ma J, Lang B, Ho J, Alos N, Matzinger MA, Shenouda N, Lentle B, Jaremko JL, Wilson B, Stephure D, Stein R, Sbrocchi AM, Rodd C, Lewis V, Israels S, Grant RM, Fernandez CV, Dix DB, Cummings EA, Couch R, Cairney E, Barr R, Abish S, Atkinson SA, Hay J, Rauch F, Moher D, Siminoski K, Halton J; Steroid-Associated Osteoporosis in the Pediatric Population (STOPP) Consortium
J Bone Miner Res 2018 Aug;33(8):1435-1443. Epub 2018 May 22 doi: 10.1002/jbmr.3447. PMID: 29786884

Clinical prediction guides

Ward LM, Ma J, Lang B, Ho J, Alos N, Matzinger MA, Shenouda N, Lentle B, Jaremko JL, Wilson B, Stephure D, Stein R, Sbrocchi AM, Rodd C, Lewis V, Israels S, Grant RM, Fernandez CV, Dix DB, Cummings EA, Couch R, Cairney E, Barr R, Abish S, Atkinson SA, Hay J, Rauch F, Moher D, Siminoski K, Halton J; Steroid-Associated Osteoporosis in the Pediatric Population (STOPP) Consortium
J Bone Miner Res 2018 Aug;33(8):1435-1443. Epub 2018 May 22 doi: 10.1002/jbmr.3447. PMID: 29786884
Ma J, McMillan HJ, Karagüzel G, Goodin C, Wasson J, Matzinger MA, DesClouds P, Cram D, Page M, Konji VN, Lentle B, Ward LM
Osteoporos Int 2017 Feb;28(2):597-608. Epub 2016 Oct 24 doi: 10.1007/s00198-016-3774-5. PMID: 27774565
Iolascon G, Frizzi L, Bianco M, Gimigliano F, Palumbo V, Sinisi AM, Sinisi AA
Aging Clin Exp Res 2015 Oct;27 Suppl 1:S31-6. Epub 2015 Jul 23 doi: 10.1007/s40520-015-0421-5. PMID: 26201943

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...