Lethal skeletal dysplasias

Last revised by Ashesh Ishwarlal Ranchod on 25 Apr 2023

Citation, DOI, disclosures and article data

Citation:

Radswiki T, Ranchod A, Knipe H, et al. Lethal skeletal dysplasias. Reference article, Radiopaedia.org (Accessed on 09 May 2024) https://doi.org/10.53347/rID-14892

DOI:

https://doi.org/10.53347/rID-14892

Permalink:

https://radiopaedia.org/articles/14892?iframe=true

rID:

14892

Article created:

3 Sep 2011, The Radswiki ◉

Disclosures:

At the time the article was created The Radswiki had no recorded disclosures.

View The Radswiki's current disclosures

Last revised:

25 Apr 2023, Ashesh Ishwarlal Ranchod ◉

Disclosures:

At the time the article was last revised Ashesh Ishwarlal Ranchod had no financial relationships to ineligible companies to disclose.

View Ashesh Ishwarlal Ranchod's current disclosures

Revisions:

9 times, by 9 contributors - see full revision history and disclosures

Systems:

Musculoskeletal, Obstetrics

Sections:

Gamuts

Tags:

cases, case2, stub

Synonyms:

Lethal skeletal dysplasia
Lethal skeletal dysplasias (LSD)

Lethal skeletal dysplasias form a heterogeneous group that is commonly characterized as being non-survivable for prolonged periods ex-utero. They include (in alphabetical order):

achondrogenesis
atelosteogenesis
campomelic dysplasia
chondrodysplasia punctata: lethal variants
metatropic dysplasia: lethal variants ⁴
Pacman dysplasia ³
perinatal lethal hypophosphatasia: primarily a metabolic abnormality but has major skeletal manifestations
osteogenesis imperfecta type II: second most common lethal skeletal dysplasia
thanatophoric dysplasia: most common lethal skeletal dysplasia
short rib polydactyly syndromes (SRPS)

Lethal skeletal dysplasias

Citation, DOI, disclosures and article data

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