نتایج جستجو برای: macrocephaly
تعداد نتایج: 695 فیلتر نتایج به سال:
Intracranial arachnoid cysts (IACs) can present as congenital asymptomatic lesions that may predispose them to present as an incidental finding during radiographic examination. On the other hand, IACs may also give rise to a series of neurologic symptoms depending on their size and location, such as vomiting, seizures, headache, and ataxia. Skull deformities, including macrocephaly, may occur a...
Four males with X linked mental retardation are described. Manifestations similar to those seen in the FG syndrome include severe constipation, tall, broad foreheads, hypotonia, and cowlicks of the hair line, but no individual patient had all the features of the syndrome and none had macrocephaly. The facial appearance was distinctive but different from that seen in the FG syndrome. The cases a...
The chromosome 17q21.31 microduplication syndrome is a rare genetic presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction. Only ten patients have been reported in the literature until today. All share some specific features, including autism spectrum disorder (ASD). Here, new case of this an 11-year-old Caucasian child who ...
Passive acoustic data collected from marine autonomous recording units deployed off Jacksonville, FL (from 13 September to 8 October 2009 and 3 December 2009 to 8 January 2010), were analyzed for detection of cetaceans and Navy sonar. Cetaceans detected included Balaenoptera acutorostrata, Eubalaena glacialis, B. borealis, Physeter macrocephalus, blackfish, and delphinids. E. glacialis were det...
Acoustically derived growth rates of sperm whales (Physeter macrocephalus) in Kaikoura, New Zealand.
A non-invasive acoustic method for measuring the growth of sperm whales was developed based on estimating the length of individuals by measuring the inter-pulse interval (IPI) of their clicks. Most prior knowledge of growth in male sperm whales has come from from fitting growth curves to length data gained from whaling. Recordings made at Kaikoura, New Zealand, were used to estimate the length ...
SUMMARY Alexander disease (AD) is a rare neurodegenerative disorder characterized by megalencephaly, leukoencephalopathy, and Rosenthal fibers within astrocytes. This report describes the case of a female patient with sonography-detected ventriculomegaly at 32 weeks' gestation and distinctive MR imaging features at 33 and 36 weeks' gestation, at birth, and at 2 months of age, which led to the s...
The NONO gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function, de novo or maternally inherited variants have been associated with an X-linked syndromic intellectual developmental disorder-34 (OMIM # 300967), characterized by delay, disability, hypotonia, macrocephaly, elongated face, structural abnormalities of corpus c...
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