Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Authors' conclusion
Overall, this study sheds light on the genetic cause of Al-Gazali skeletal dysplasia and identifies it as a semi-lethal part of the spectrum of ADAMTSL2-related disorders.
Study context
- Population
- Patients with clinical and radiographic features consistent with short-limb skeletal dysplasia Al-Gazali type
- Participants
- 9 patients
- Outcome
- Genetic etiology of Al-Gazali skeletal dysplasia
Methodological detailsinternational collaboration, seven clinical centers, massively parallel sequencing and Sanger sequencing
- International collaboration
- Seven clinical centers
- Massively parallel sequencing and Sanger sequencing
Main finding
As reported in the abstract
Compound heterozygous for pathogenic ADAMTSL2 variants
6 individuals
Homozygous for pathogenic ADAMTSL2 variants
1 individual
Pathogenic variants detected in parental samples only
1 family
Observational data: associations, not effects.
Further findings
Clinical phenotype
- Moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short stiff limbs with small hands and feet, severe brachydactyly, generalized bone sclerosis with mild platyspondyly
Original publication
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders. J Bone Miner Res. Published 10 March 2023. doi:10.
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