نتایج جستجو برای: philtrum
تعداد نتایج: 262 فیلتر نتایج به سال:
Chromosome 6 deletions are very rare (1,2), and deletion 6q syndrome is clinically characterized by mental and/or neuromotor retardation and microcephaly (3). Other alterations frequently observed are decreased biparietal diameter, hypertelorism, hypotelorism, absent eyebrows, prominent eyes with ptosis, receding chin, dysmorphic ears, large extremities, prominent nasal bridge, long philtrum, e...
We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was cha...
Abstract. Community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) is a pathogen recognized to be distinct in both phenotype and genotype from hospital-acquired MRSA. We have identified CA-MRSA cases in Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia, including their antibiotic susceptibility patterns and genotypic characteristics. Cases were identified dur...
AIM Solitary Median Maxillary Central Incisor (SMMCI) is a developmental anomaly in the permanent dentition with one single central incisor in the maxilla, positioned exactly in the midline. This condition has been associated with extra- and intraoral malformations in the frontonasal segment of the cranium and face. It is not known whether the centrally located permanent incisor is always pr...
The patient (fig 1) was an 11-year-old Caucasian boy, the second child of non-consanguineous parents aged 21 and 27 at the time of his conception. His elder sister was normal and died accidentally at the age of 7 years. The outcome of the third pregnancy of the couple was an anencephalic male. The proband was born after an uneventful term pregnancy and was delivered with the aid of forceps. His...
Parental origin specific congenital anomalies have been noted in patients with uniparental disomy of the long arm of human chromosome 14 (UPD14). This suggests the presence of imprinted genes, consistent with observations of imprinting in the region of syntenic homology in the mouse. It is not known whether the distinct defects reported for paternal and maternal UPD14 are the result of bialleli...
A 28-year-old woman presented with an erythematous rash involving the nose, nasolabial folds, and philtrum that appeared after she had manipulated a painful vesicular lesion at the base of her nose that she believed to be a pimple. The patient received cloxacillin for presumed erysipelas and had a partial response. However, after cloxacillin therapy, worsening induration (Panel A) prompted trea...
Snodgrass et al (1966) divided the D trisomy syndrome into two phenotypic categories based on facial appearance. Patients in their first category had facies associated with defects of prosencephalic cleavage. A striking finding was median cleft lip and palate. In addition there was orbital hypotelorism with severe ocular anomalies, hypoplasia or aplasia of the crista galli, of the median philtr...
We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was cha...
BACKGROUND Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients. METHODS Clinical data were co...
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