نتایج جستجو برای: hypotelorism
تعداد نتایج: 58 فیلتر نتایج به سال:
holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies. it is the most common forebrain developmental anomaly in humans with prevalence of 1/16,000 in live borns, an incidence as high as 1:250 in conceptu...
EDITOR—Deletions of 4p16.3 have attracted considerable attention, particularly since the introduction of FISH and molecular techniques, and are associated with a variety of clinical pictures. Although all aVected subjects are mentally retarded, this can vary from profound to mild and the physical manifestations may be those of the severe, often fatal, Wolf-Hirschhorn syndrome (WHS) or of the re...
EDITOR—Deletions of 4p16.3 have attracted considerable attention, particularly since the introduction of FISH and molecular techniques, and are associated with a variety of clinical pictures. Although all aVected subjects are mentally retarded, this can vary from profound to mild and the physical manifestations may be those of the severe, often fatal, Wolf-Hirschhorn syndrome (WHS) or of the re...
EDITOR—Deletions of 4p16.3 have attracted considerable attention, particularly since the introduction of FISH and molecular techniques, and are associated with a variety of clinical pictures. Although all aVected subjects are mentally retarded, this can vary from profound to mild and the physical manifestations may be those of the severe, often fatal, Wolf-Hirschhorn syndrome (WHS) or of the re...
BACKGROUND AND PURPOSE The middle interhemispheric variant of holoprosencephaly (MIH) is a rare malformation in which the cerebral hemispheres fail to divide in the posterior frontal and parietal regions. We herein describe the structural abnormalities of the brain in a large group of patients with MIH, compare these features with those of classic holoprosencephaly (HPE), and propose a developm...
EDITOR—Deletions of 4p16.3 have attracted considerable attention, particularly since the introduction of FISH and molecular techniques, and are associated with a variety of clinical pictures. Although all aVected subjects are mentally retarded, this can vary from profound to mild and the physical manifestations may be those of the severe, often fatal, Wolf-Hirschhorn syndrome (WHS) or of the re...
A wide spectrum of the teratogenic effects of cyclophosphamide (CP) have been reported involving multiple tissues and organ systems of animals, but more population based studies may still be essential to conclusively demonstrate teratogenicity of CP in humans. However, a number of studies demonstrate that CP is a human teratogen due to its effects such as intrauterine growth retardation and mul...
Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence, and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment neuropathies...
EDITOR—Deletions of 4p16.3 have attracted considerable attention, particularly since the introduction of FISH and molecular techniques, and are associated with a variety of clinical pictures. Although all aVected subjects are mentally retarded, this can vary from profound to mild and the physical manifestations may be those of the severe, often fatal, Wolf-Hirschhorn syndrome (WHS) or of the re...
Holoprosencephaly (HPE) is a malformation that arises during the first 4 weeks of embryonic development (blastogenesis)[1] caused by a failure or incomplete division of the prosencephalon into cerebral hemispheres. This defect is frequently associated with other facial anomalies such as anophthalmia, cyclopia, proboscis, midface clefting, hypertelorism, single maxillary central incisor, and abs...
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