genetics of mondini malformation.
نویسندگان
چکیده
no abstract
منابع مشابه
Severe Klippel-Feil syndrome with Mondini malformation of inner ear
Klippel-Feil syndrome is defined as the fusion of cervical vertebra with associated congenital anomalies but was rarely reported to be associated with Mondini Malformation. We report a newborn girl with severe neck extension, computed tomography (CT) of the neck after birth showed fusion of the fifth, sixth, and seventh cervical vertebrae, compatible with Klippel-Feil Syndrome and CT temporal b...
متن کاملRefinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.
S plit hand/foot malformation type I (SHFM1, OMIM *183600) is an autosomal dominant developmental disorder of limb formation that results in the absence of the central digital rays, deep median clefts, and syndactyly of the remaining digits. Patients with SHFM1 harbour deletions, translocations, and inversions in chromosomal region 7q21–q22. The deletions at 7q21–q22 encompass different genomic...
متن کاملELECTRONIC LETTER Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia
S plit hand/foot malformation type I (SHFM1, OMIM *183600) is an autosomal dominant developmental disorder of limb formation that results in the absence of the central digital rays, deep median clefts, and syndactyly of the remaining digits. Patients with SHFM1 harbour deletions, translocations, and inversions in chromosomal region 7q21–q22. The deletions at 7q21–q22 encompass different genomic...
متن کاملPneumoviruses: Molecular Genetics and Reverse Genetics
Pneumoviruses are responsible for significant respiratory disease in their hosts and represent a major problemfor human and animal health. Pneumoviruses are members of the family Paramyxoviridae, subfamilyPneumovirinae and the virus particles consist of a negative-sense, nonsegmented RNA genome within a helical nucleocapsid structure enveloped in a lipid membrane derived from the ho...
متن کاملPeripheral vestibular pathology in Mondini dysplasia.
OBJECTIVES/HYPOTHESIS In this study, our objective was to histopathologically analyze the peripheral vestibular system in patients with Mondini dysplasia. STUDY DESIGN Comparative human temporal bone study. METHODS We assessed the sensory epithelium of the human vestibular system with a focus on the number of type I and type II hair cells, as well as the total number of hair cells. We compa...
متن کاملRecurrent Bacterial Meningitis in a Child with Mondini Dysplasia
Mondini dysplasia, also known as Mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid (CSF) leakage, and recurrent bacterial meningitis (RBM), which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. An accurate diagnosis of th...
متن کاملمنابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
acta medica iranicaجلد ۵۱، شماره ۵، صفحات ۳۴۵-۳۴۶
کلمات کلیدی
میزبانی شده توسط پلتفرم ابری doprax.com
copyright © 2015-2023