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Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome.
- Source :
- Congenital Anomalies; Sep2023, Vol. 63 Issue 5, p174-175, 2p
- Publication Year :
- 2023
-
Abstract
- 1 TABLE Comparison with the present patient and reported four patients and Tatton-Brown-Rahman syndrome. In conclusion, HESJAS is included in the differential diagnosis of patients with DD/ID, marked microcephaly, and distinctive face. Heyn-Sproul-Jackson syndrome (MIM#618724: HESJAS) is an autosomal dominant disorder that is characterized by growth retardation, microcephaly, developmental disabilities, and intellectual disabilities (DD/ID).[1] HESJAS is caused by gain-of-function (GoF) variants of the I DNMT3A i , whereas Tatton-Brown-Rahman syndrome (MIM#615879: TBRS) caused by loss-of-function variants of the I DNMT3A i presents a counterpart phenotype characterized by overgrowth, distinctive facial dysmorphism and DD/ID (Table 1).[2] So far, only four patients have been reported, and clinical information is limited to the childhood period.[[1], [3]] Here, we report an adult patient of HESJAS. [Extracted from the article]
Details
- Language :
- English
- ISSN :
- 09143505
- Volume :
- 63
- Issue :
- 5
- Database :
- Complementary Index
- Journal :
- Congenital Anomalies
- Publication Type :
- Academic Journal
- Accession number :
- 171583351
- Full Text :
- https://doi.org/10.1111/cga.12532