نتایج جستجو برای: nonsyndromic
تعداد نتایج: 1750 فیلتر نتایج به سال:
Cranial magnetic resonance imaging findings suggestive of specific mitochondrial syndromes are reported. However, cranial magnetic resonance imaging features in children with nonsyndromic mitochondrial diseases are rarely described. From January 1992-September 2009, data from 33 patients with nonsyndromic mitochondrial diseases were collected. We investigated cranial magnetic resonance imaging ...
Purpose Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel CLN7/MFSD8 mutation combinations were investigated in this study. Methods Affected patients and...
BACKGROUND AND OBJECTIVES In 2011, the US Secretary of Health and Human Services recommended universal screening of newborns for critical congenital heart defects (CCHDs), yet few estimates of the number of infants with CCHDs likely to be detected through universal screening exist. Our objective was to estimate the number of infants with nonsyndromic CCHDs in the United States likely to be dete...
OBJECTIVES To identify mutations in the SLC26A4 gene in individuals with nonsyndromic hearing loss and enlarged vestibular aqueduct, to design a predicted model of the pendrin protein, and to characterize novel mutations by means of localization in mammalian cells and effect of the mutation on the predicted model. DESIGN Validation of the mutation by its exclusion in more than 300 individuals...
the presence of supernumerary teeth is not uncommon in the general population. they occur more frequently in patients with a family history of such teeth. it is rare to find multiple supernumeraries in individuals with no other associated disease or syndrome. there have been very few documented cases of bilateral maxillary and mandibular supernumeraries in the premolar region. an unusual case o...
For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26-q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communicatio...
Median cleft of lower lip and mandible is a rare congenital anomaly described as cleft number 30 of Tessier's classification. In minor forms only lower lip cleft is seen. We report the case of a patient with median cleft of lower lip, severe ankyloglossia, cleft of mandibular symphysis, and residual cleft involving on right soft palate and associated with other facial clefts. These deformities ...
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