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- W4220912102 abstract "The Coffin Siris syndrome (CSS) is a neurodevelopmental syndrome divided into 12 types, each associated with a different gene. Congenital anomalies affecting the central nervous system, heart, gastrointestinal and genitourinary systems are common. In contrast, congenital diaphragmatic hernia (CDH) is a relatively rare anomaly that has only been described in CSS type 1, 3, 4, 5 and 9. A 2-year-old female was referred to the genetics inpatient service. She was diagnosed prenatally with a left-sided, non-sac CDH, with a total fetal lung volume of 20% of expected. She was later noticed to have a global developmental delay. The family history was positive for a father with speech delay, learning disabilities and a congenital ventricular septal defect (VSD). He also has a hearing impairment. Physical examination of the patient showed sparse hair, flat nasal bridge, broad nose and anteverted nares. Both the patient and her father had short 5th digits on both hands. Trio exome sequencing revealed a paternally inherited c.98_107del [NM_006015.6], p.(Glu33Glyfs*15) loss-of-function variant in ARID1A. This finding was consistent with a molecular diagnosis of CSS type 2 in both the proband and her father. Our results suggest that in addition to CSS type 1, 3, 4, 5 and 9, CDH can be a feature of CSS type 2, which was not previously associated with this defect. Future studies will be needed to determine if an increased risk for developing CDH is a feature seen in all types of CSS, or only in CSS associated with specific genes." @default.
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- W4220912102 date "2022-03-01" @default.
- W4220912102 modified "2023-09-25" @default.
- W4220912102 title "eP132: Congenital diaphragmatic hernia as a feature of Coffin Siris syndrome type 2" @default.
- W4220912102 doi "https://doi.org/10.1016/j.gim.2022.01.168" @default.
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