نتایج جستجو برای: metopic
تعداد نتایج: 145 فیلتر نتایج به سال:
OBJECTIVE Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes. DESIGN Using single-strand conformational polymorphisms (SSCPs), denaturing high-performance liquid chromatography, and/or direct sequencing, we ...
DESCRIPTION An 8-month-old baby boy presents with trigonocephaly and undergoes anterior cranial vault reconstruction for metopic craniosynostosis.
OBJECTIVES To examine the possible association of skull deformity and the development of the cranial sutures in fetuses with Apert syndrome. METHODS Three-dimensional (3D) ultrasound was used to examine the metopic and coronal sutures in seven fetuses with Apert syndrome at 22-27 weeks of gestation. The gap between the frontal bones in the transverse plane of the head at the level of the cavu...
OBJECTIVE The purpose of this study was to elucidate the anatomical development of physiologic suture closure processes in infants using three dimensional reconstructed computed tomography (CT). METHODS A consecutive series of 243 infants under 12 months of age who underwent three dimensional CT were included in this study. Four major cranial sutures (sagittal, coronal, lambdoidal and metopic...
Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture. Incidence is estimated at 1/15,000 births. Males are more frequently affected than females (sex ratio of 2:1) and the frequency of trigonocephalic twins is unexpectedly high. The premature closure of the metopic suture results in deformation of the anterior portion of ...
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well-described rare autosomal dominant condition due to haploinsufficiency of PTCH1. With the availability of comparative genomic hybridization arrays, increasing numbers of individuals with microdeletions involving this locus are being identified. We present 10 previously unreported individuals with 9q22.3 dele...
We reviewed 25 patients ascertained through the finding of trigonocephaly/metopic synostosis as a prominent manifestation. In 16 patients, trigonocephaly/metopic synostosis was the only significant finding (64%); 2 patients had metopic/sagittal synostosis (8%) and in 7 patients the trigonocephaly was part of a syndrome (28%). Among the nonsyndromic cases, 12 were males and 6 were females and th...
Investigators from University of Washington, Seattle, WA; Harvard U, MA; St Louis, MO; Atlanta, GA; Northwestern U, and Shriner's Hospital, Chicago, compared the development of school-aged children with single-suture craniosynostosis (sagittal, metopic, unicoronal, lambdoid) and unaffected children.
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