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Case Reports
. 2024 Mar;105(3):313-316.
doi: 10.1111/cge.14455. Epub 2023 Nov 22.

CATSHL syndrome, a new family and phenotypic expansion

Silvia Cannova  1 , Camilla Meossi  2 , Federico Grilli  2 , Donatella Milani  2 , Federica Alberti  1 , Claudia Cesaretti  2 , Paola Giovanna Marchisio  2   3 , Francesca Crosti  4 , Lidia Pezzani  2   5
Affiliations
Free article
Case Reports

CATSHL syndrome, a new family and phenotypic expansion

Silvia Cannova et al. Clin Genet. 2024 Mar.
Free article

Abstract

We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly - Tall stature - Scoliosis - Hearing Loss syndrome) syndrome was suspected, and molecular analysis revealed a hitherto unreported, monoallelic variant c.1861C>T (p.Arg621Cys) in FGFR3. This variant affects the same residue, but is different than, the variant p.Arg621His reported in the two families with dominant CATSHL described so far. Interestingly, peg-shaped incisors were observed in the proband, a feature never reported in CATSHL but typical of another FGFR3-related condition, LADD (Lacrimo - Auricolo - Dento - Digital) syndrome. The FGFR3 p.Arg621Cys variant seems to be a newly identified cause of CATSHL syndrome with some phenotypic overlap with the LADD syndrome.

Keywords: CATSHL syndrome; FGFR3; LADD syndrome; camptodactyly; deafness; overgrowth; scoliosis.

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References

REFERENCES

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Supplementary concepts