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Absent or minimally ossified vertebral bodies

MedGen UID:
371455
Concept ID:
C1832983
Finding
HPO: HP:0004599

Conditions with this feature

Achondrogenesis, type IB
MedGen UID:
78547
Concept ID:
C0265274
Congenital Abnormality
Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton. The face is flat, the neck is short, and the soft tissue of the neck may be thickened. Death occurs prenatally or shortly after birth.
Greenberg dysplasia
MedGen UID:
418969
Concept ID:
C2931048
Disease or Syndrome
Greenberg dysplasia (GRBGD), also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia.

Professional guidelines

PubMed

Dalmau J, Graus F
Lancet Neurol 2023 Jun;22(6):529-540. doi: 10.1016/S1474-4422(23)00083-2. PMID: 37210100
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Nat Rev Gastroenterol Hepatol 2022 Jan;19(1):60-78. Epub 2021 Oct 27 doi: 10.1038/s41575-021-00523-4. PMID: 34707258
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Recent clinical studies

Etiology

Smith MM, Kou YF, Schweiger C, Lehenbauer DG, de Alarcon A, Rutter MJ
Otolaryngol Head Neck Surg 2021 Feb;164(2):422-426. Epub 2020 Aug 25 doi: 10.1177/0194599820950725. PMID: 32838669
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Diagnosis

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Therapy

Handoll HH, Elliott J, Thillemann TM, Aluko P, Brorson S
Cochrane Database Syst Rev 2022 Jun 21;6(6):CD000434. doi: 10.1002/14651858.CD000434.pub5. PMID: 35727196Free PMC Article
Ball EL, Owen-Booth B, Gray A, Shenkin SD, Hewitt J, McCleery J
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Rothmore J
Med J Aust 2020 Apr;212(7):329-334. Epub 2020 Mar 15 doi: 10.5694/mja2.50522. PMID: 32172535
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Prognosis

Cunningham ME, Klug TD, Nuchtern JG, Chintagumpala MM, Venkatramani R, Lubega J, Naik-Mathuria BJ
J Surg Res 2020 Mar;247:34-51. Epub 2019 Dec 3 doi: 10.1016/j.jss.2019.10.044. PMID: 31810638
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Clinical prediction guides

Felli JC, Leishman DJ
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Recent systematic reviews

De Amicis R, Mambrini SP, Pellizzari M, Foppiani A, Bertoli S, Battezzati A, Leone A
Eur J Nutr 2022 Aug;61(5):2297-2311. Epub 2022 Mar 24 doi: 10.1007/s00394-022-02873-4. PMID: 35322333Free PMC Article
Sandroni C, D'Arrigo S, Cacciola S, Hoedemaekers CWE, Kamps MJA, Oddo M, Taccone FS, Di Rocco A, Meijer FJA, Westhall E, Antonelli M, Soar J, Nolan JP, Cronberg T
Intensive Care Med 2020 Oct;46(10):1803-1851. Epub 2020 Sep 11 doi: 10.1007/s00134-020-06198-w. PMID: 32915254Free PMC Article
Craciunas L, Gallos I, Chu J, Bourne T, Quenby S, Brosens JJ, Coomarasamy A
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Pandolfino JE, Gawron AJ
JAMA 2015 May 12;313(18):1841-52. doi: 10.1001/jama.2015.2996. PMID: 25965233
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J Dent Res 2014 Oct;93(10):943-9. Epub 2014 Jul 21 doi: 10.1177/0022034514544217. PMID: 25048250Free PMC Article

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