Publications by authors named "Rahaf E Farah"
Traumatic abdominal wall hernia (TAWH) is a rare type of hernia with an incidence of about <1.5%, resulting from blunt abdominal trauma, which leads to an increase in the intra-abdominal pressure and rupture in the abdominal musculature and fascia with herniation of the abdominal organs into the defect. Most TAWH contained either a small bowel (69%) or a large bowel (36%), with 16% containing both.
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- - Osteogenesis imperfecta (OI) is a genetic disorder primarily caused by defects in collagen type 1 due to mutations in the COL1A1 and COL1A2 genes, usually inherited in an autosomal dominant pattern but can occur sporadically.
- - Severe forms of OI can be detected through prenatal ultrasounds that show limb deformities, and genetic testing is often required for a definitive diagnosis in early childhood.
- - A case study highlights a three-year-old boy with sporadic OI type III, diagnosed at 15 months after exome sequencing revealed a rare COL1A2 gene variant, following a prenatal ultrasound that indicated skeletal issues.