Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data

DONSON (recurrent variant — biallelic, replication fork stability)

Recurrent DONSON variant — first report of thumb aplasia + prenatal data + long-term follow-up in 2 siblings

Meier-Gorlin syndrome is a rare primordial dwarfism characterized by microtia, patellar hypoplasia/aplasia and short stature, with DONSON recently identified as the most frequent causal gene (only 6 patients previously described). The authors report 2 Turkish siblings carrying a recurrent DONSON variant, with the index patient presenting thumb aplasia as a phenotypic feature for the first time. Prenatal data and longitudinal follow-up (progressive growth improvement) are included.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Sixth and seventh documented DONSON-MGORS patients — the case database remains very limited. Thumb aplasia is a new sign to integrate into the diagnostic spectrum of DONSON-MGORS. Prenatal data are useful for antenatal diagnosis and counselling in at-risk families. Reference article for dysmorphology teams.

known gene +0; biallelic +1; thumb aplasia expansion (1st case) +1; prenatal data +1; long-term follow-up 2 siblings +1; J Pediatr Endocrinol Metab +1