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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).
See: Condition Record
Achondrogenesis type II

Recent clinical studies

Etiology

Compression Fractures and Partial Phenotype Rescue With a Low Phosphorus Diet in the Chihuahua Zebrafish Osteogenesis Imperfecta Model.
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
Bone Morbidity and Recovery in Children With Acute Lymphoblastic Leukemia: Results of a Six-Year Prospective Cohort Study.
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
The time to and determinants of first fractures in boys with Duchenne muscular dystrophy.
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
Bone involvement in males with Kallmann disease.
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

The time to and determinants of first fractures in boys with Duchenne muscular dystrophy.
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
Bone involvement in males with Kallmann disease.
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

The time to and determinants of first fractures in boys with Duchenne muscular dystrophy.
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
Bone involvement in males with Kallmann disease.
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

Bone Morbidity and Recovery in Children With Acute Lymphoblastic Leukemia: Results of a Six-Year Prospective Cohort Study.
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

Bone Morbidity and Recovery in Children With Acute Lymphoblastic Leukemia: Results of a Six-Year Prospective Cohort Study.
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
The time to and determinants of first fractures in boys with Duchenne muscular dystrophy.
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
Bone involvement in males with Kallmann disease.
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

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