نتایج جستجو برای: severe multiple synostosis
تعداد نتایج: 1061560 فیلتر نتایج به سال:
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
OBJECTIVE The advent of endoscopic synostectomy has enabled early surgery for infants with craniosynostosis. Even though diagnosis is often made at birth, traditionally been delayed until the infant 3 months age. There have very few published reports this procedure being performed in neonatal period. authors discuss their experience ultra-early synostectomy, defined as an operation aged 8 weeks...
This report presents a 54-year-old woman with Goldenhar syndrome featuring an epibulbar dermoid, left microtia and a left preauricular appendage, and synostosis of the vertebrae. Multiple cardiovascular malformations including Wolff-Parkinson-White syndrome, a partial anomalous pulmonary venous connection, patent ductus arteriosus, an anomalous origin of the coronary arteries, and a right-sided...
#201750). FGFR2 mutations show variable clinical penetrance and patients with the same FGFR2 mutation can exhibit diverse clinical features. Therefore, FGFR2-related craniosynostosis syndromes are usually named according to the accompanying extra-cranial manifestations. ABS is a rare type of craniosynostosis syndrome. ABS is typically distinguished by systemic bony fusions of skull sutures and ...
Crouzon Syndrome is a rare genetic disorder resulting from a mutation of the Fibroblast Growth Factor Receptor 2 Gene. The main presenting feature of this syndrome is craniofacial synostosis but multiple physical dysmorphic features have been reported. There is a dearth of literature detailing the presentation of this syndrome in the foot and lower limb. Therefore, this case report will describ...
OBJECTIVE Craniosynostosis (CS) affects about 1 in 2500 infants and is predominantly treated by surgical intervention infancy. Later childhood, many of these children wish to participate sports. However, the safety participation largely anecdotal based on surgeon experience. The objective this survey study was describe sport sport-related head injury CS patients. METHODS A 16-question related c...
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