نتایج جستجو برای: apert syndrome
تعداد نتایج: 621953 فیلتر نتایج به سال:
BACKGROUND Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2. It is characterized by three specific clinical features: brachycephalic skull; midface hypoplasia, and limb abnormalities (syndactyly of hands and feet). The disorder exhibits variable presen...
Several mutations involving the fibroblast growth factor receptor (FGFR) gene family have been identified in association with phenotypically distinct forms of craniosynostosis. One such point mutation, resulting in the substitution of proline by arginine in a critical region of the linker region between the first and second immunoglobulin-like domains, is associated with highly specific phenoty...
Severe hypertension is a well-recognised cause for acute medical admission, and can have serious consequences if untreated. We present a 48 year old patient in whom coarctation of the aorta was identified following the finding of severe hypertension at the time of routine preoperative assessment, and subsequent finding of absent lower limb pulses. The patient had a past history of Apert syndrom...
C . S . was born at term after an uncomplicated gestation. At delivery, her mother was a 25-year-old, healthy, gravida 2, para 1 woman who denied illnesses and use of drugs or medications during pregnancy. Both parents and another older brother were normal. At birth, the infant was noted to have a skin-covered mass bulging from the metopic suture extending externally to the tip of her nose, mar...
Cystic cervical hygroma or cervical cystic lymphangioma is a congenital benign disease of the lymphatic system that is characterized by the accumulation of lymph in the jugular lymphatic sacs of the nuchal region. The factor that causes this pathology is not clarified yet but the physiopathological mechanism seems to be multifactorial. The incidence and prevalence of cervical hygroma are increa...
Whilst modern imaging modalities have far advanced antenatal diagnoses, the perinatal autopsy remains gold standard in confirming and assessing fetal dysmorphology. The presence of multiple abnormalities involving several organ systems raises clinical suspicion an underlying genetic syndrome. Our case involves a nulliparous woman her third decade life with unmarkable medical familial history. S...
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