Publications by authors named "S F Smithson"
Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.
Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.
We present the first description of a family in which 2 siblings show alternative expression of CRKL gene deletion as the phenotypes of Zinner (OSVIRA, obstructed seminal vesicle and ipsilateral renal agenesis) and OHVIRA (obstructed hemivagina with an ipsilateral renal anomaly) syndromes. The male infant with Zinner syndrome and his sister aged 5 years with OHVIRA syndrome both have a paternally inherited 703-kb deletion at chromosome 22q11.21 that includes CRKL.
View Article and Find Full Text PDFAdvancements in the treatment of burns have considerably improved overall survival rates, but they have also highlighted several long-term sequelae related to the injury. Hypertrophic scars can impair function, reduce quality of life, and require multiple procedures as well as physical therapy. The purpose of this study was to investigate the effects of topical application of anti-inflammatory drugs in the treatment of burns.
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- Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder that often presents with congenital great toe abnormalities (CBHV), intermittent swelling, and abnormal bone growth.
- A case report describes a three-month-old girl with CBHV whose condition raised concerns for FOP, but comprehensive genetic testing revealed no typical markers for the disorder.
- The findings emphasize the importance of CBHV as an early diagnostic sign for FOP, while also suggesting that affected infants should be carefully evaluated and monitored before confirming a diagnosis.
Background/objectives: Actinic keratoses (AK) are premalignant skin lesions caused by chronic sun exposure, topically managed by 5-fluorouracil (5-FU), diclofenac 3% gel, and imiquimod. Despite their effectiveness, long treatment duration and severe adverse local skin reactions have limited patient concordance. Calcipotriol has recently been used as a combination agent for existing topical AK treatments.
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