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CATSHL syndrome,a new family and phenotypic expansion |
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| Authors: | Silvia Cannova Camilla Meossi Federico Grilli Donatella Milani Federica Alberti Claudia Cesaretti Paola Giovanna Marchisio Francesca Crosti Lidia Pezzani |
| Affiliation: | 1. Università degli Studi di Milano, Milano, Italy;2. Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy;3. Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Università degli Studi di Milano, Milano, Italy;4. UO Genetica Medica, IRCCS San Gerardo, Monza, Italy;5. Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy UO Pediatria, ASST Papa Giovanni XXIII, Bergamo, Italy |
| 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: | camptodactyly CATSHL syndrome deafness FGFR3 LADD syndrome overgrowth scoliosis |