نتایج جستجو برای: philtrum
تعداد نتایج: 262 فیلتر نتایج به سال:
OBJECTIVE To estimate the incidence and document the clinical characteristics of Williams-Beuren syndrome in the Hong Kong Chinese population. DESIGN Cytogenetic analysis and retrospective study. SETTING Clinical Genetic Service, Department of Health, Hong Kong. PATIENTS Forty-one Chinese patients with Williams-Beuren syndrome. MAIN OUTCOME MEASURES From 1 January 1995 to 30 June 2002, ...
BACKGROUND Anterior segmental osteotomy has become an established surgical technique to achieve functional occlusion and improve the facial profile in the treatment of maxillary protrusion. Postoperative nasal changes, however, are somewhat unpredictable. The here presented subapical anterior maxillary segmental osteotomy has been developed to avoid such unintended nasal changes. PATIENTS AND...
The purpose of this report is to demonstrate how to measure the magnitude of expression of the fetal alcohol syndrome (FAS) facial phenotype using the new 4-Digit Diagnostic Code and the previously developed D-score and to demonstrate how these two measures of the FAS facial phenotype correlate with brain function and structure; correlations that fail to be identified by the older gestalt metho...
INTRODUCTION Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infectio...
BACKGROUND Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400) due to haploinsufficiency of the PTCH1 gene (MIM *601309). METHODS AND RESULTS We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 M...
OBJECTIVE To investigate the feasibility of echographic imaging of healthy and reconstructed cleft lip and to estimate tissue dimensions and normalized echo level. METHODS Echographic images of the upper lip were made on three healthy subjects and two patients using a linear array transducer (7 to 11 MHz bandwidth) and a noncontact gel coupling. Tissue dimensions were measured using calipers....
Eight children with the fetal alcohol syndrome are described with ocular anomalies. They all had a strong history of maternal alcohol abuse throughout pregnancy, especially in the first trimester. All the children had eye abnormalities. These included external eye lesions, Peters' anomaly, lens opacification, ocular motility disorders, and optic nerve hypoplasia. Fetal alcohol syndrome is chara...
BACKGROUND Isolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor prognosis and high mortality. Complex I comprises 44 structural subunits with at least 10 ancillary proteins; mutations in 29 of these have so far been associated with mitochondrial disease but there are limited genotype-phenotype correlations to guide clinicians to th...
To cite: Kumar MH, Kumar MS, Siva Kumar V, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015211429 DESCRIPTION 3-M syndrome is a rare autosomal recessive disorder characterised by short stature, dysmorphic facial features and skeletal abnormalities. Individuals with 3-M syndrome have a recognisable pattern of features including a triangular face with poi...
BACKGROUND Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia. METHODS The study characterised the CASK alteration in 20 new female patients by molecular karyotyping, fluorescence in situ hybridisation, sequencing, reverse transcriptase (RT) and...
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