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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
TERMINOLOGY
Definitions
- Group of lethal osteochondrodysplasias due to failure of cartilaginous matrix formation
- Characterized by severe micromelia, unossified spine, short trunk, and disproportionately large head
- 3 main subtypes based on clinical features
- Type IA achondrogenesis (Houston-Harris)
- Type IB achondrogenesis (Fraccaro)
- Type II achondrogenesis (Langer-Saldino)
- Hypochondrogenesis
- Allelic disorder similar to achondrogenesis type II
- Group of lethal osteochondrodysplasias due to failure of cartilaginous matrix formation
IMAGING
General Features
Ultrasonographic Findings
Other Modality Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Bisht RU et al: Hypochondrogenesis: a pictorial assay combining ultrasound, MRI and low-dose computerized tomography. Clin Imaging. 69:363-8, 2020
- Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
- Sato T et al: Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. Am J Med Genet A. 182(4):735-39, 2020
- Wang W et al: Diagnosis of prenatal-onset achondrogenesis type II by a multidisciplinary assessment: a retrospective study of 2 cases. Case Rep Obstet Gynecol. 2019:7981767, 2019
- Bird IM et al: The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects. Development. 145(1), 2018
- Vanegas S et al: Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. Appl Clin Genet. 11:69-73, 2018
- Heinrich T et al: Co-occurence of reciprocal translocation and COL2A1 mutation in a fetus with severe skeletal dysplasia: implications for genetic counseling. cytogenet genome res. 145(1):25-8, 2015
- Weisman PS et al: Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester. Pediatr Dev Pathol. 17(1):10-20, 2014
- Grigelioniene G et al: The phenotype range of achondrogenesis 1A. Am J Med Genet A. 161A(10):2554-8, 2013
- Comstock JM et al: Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. Am J Med Genet A. 152A(7):1822-4, 2010
- Dighe M et al: Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases. Radiographics. 2008 Jul-Aug;28(4):1061-77. Review. Erratum in: Radiographics. 29(2):638, 2009
- Krakow D et al: Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 11(2):127-33, 2009
- Krakow D et al: Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A. 146A(15):1917-24, 2008
- Faivre L et al: Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. Am J Med Genet A. 126(3):308-12, 2004
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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
TERMINOLOGY
Definitions
- Group of lethal osteochondrodysplasias due to failure of cartilaginous matrix formation
- Characterized by severe micromelia, unossified spine, short trunk, and disproportionately large head
- 3 main subtypes based on clinical features
- Type IA achondrogenesis (Houston-Harris)
- Type IB achondrogenesis (Fraccaro)
- Type II achondrogenesis (Langer-Saldino)
- Hypochondrogenesis
- Allelic disorder similar to achondrogenesis type II
- Group of lethal osteochondrodysplasias due to failure of cartilaginous matrix formation
IMAGING
General Features
Ultrasonographic Findings
Other Modality Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Bisht RU et al: Hypochondrogenesis: a pictorial assay combining ultrasound, MRI and low-dose computerized tomography. Clin Imaging. 69:363-8, 2020
- Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
- Sato T et al: Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. Am J Med Genet A. 182(4):735-39, 2020
- Wang W et al: Diagnosis of prenatal-onset achondrogenesis type II by a multidisciplinary assessment: a retrospective study of 2 cases. Case Rep Obstet Gynecol. 2019:7981767, 2019
- Bird IM et al: The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects. Development. 145(1), 2018
- Vanegas S et al: Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. Appl Clin Genet. 11:69-73, 2018
- Heinrich T et al: Co-occurence of reciprocal translocation and COL2A1 mutation in a fetus with severe skeletal dysplasia: implications for genetic counseling. cytogenet genome res. 145(1):25-8, 2015
- Weisman PS et al: Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester. Pediatr Dev Pathol. 17(1):10-20, 2014
- Grigelioniene G et al: The phenotype range of achondrogenesis 1A. Am J Med Genet A. 161A(10):2554-8, 2013
- Comstock JM et al: Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. Am J Med Genet A. 152A(7):1822-4, 2010
- Dighe M et al: Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases. Radiographics. 2008 Jul-Aug;28(4):1061-77. Review. Erratum in: Radiographics. 29(2):638, 2009
- Krakow D et al: Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 11(2):127-33, 2009
- Krakow D et al: Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A. 146A(15):1917-24, 2008
- Faivre L et al: Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. Am J Med Genet A. 126(3):308-12, 2004
