macrocephaly वाक्य

उदाहरण वाक्य

1. A 2008 study concluded that Peek probably had FG syndrome, a rare genetic syndrome linked to the X chromosome which causes physical anomalies such as hypotonia ( low muscle tone ) and macrocephaly ( abnormally large head ).
2. Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterised by hamartomatous intestinal polyposis, macrocephaly, lipomatosis, nevi, asymmetric overgrowth of various body parts, adipose tissue dysregulation, cystadenomas, adenomas, vascular malformation.
3. First reported by Opitz and Kaveggia in 1974, its major clinical features include intellectual disability, hyperactivity, hypotonia ( low muscle tone ), and a characteristic facial appearance including macrocephaly ( an abnormally large head ).
4. Severe hydrocephalus causing macrocephaly, a larger than average head circumference, can easily be managed by placement of a shunt and often displays a misdiagnosis of another lesser variation of cephalic condition due to the blanketing nature of hydrocephalus.
5. At one end of the genetic spectrum, duplications of chromosomes have been found to be related to autism and macrocephaly; at the other end, deletions of chromosomes have been found to be related to schizophrenia and microcephaly.
6. Evidence that Bunyamwera serogroup viruses in North America are associated with congenital defects such as macrocephaly and / or microcephaly in humans suggests the possibility that Tensaw virus and other viruses of the family Bunyaviridae may have teratogenic potential in humans.
7. Mutations in CHD8 could lead to upregulation of ?-catenin-regulated genes, in some part of the brain this upregulation can cause brain overgrowth also known as macrocephaly, which occurs in 15-35 % of autistic children.
8. By means of exome sequencing, two variants-P377A and V231I on the SAMM50 gene were determined to have a potential relationship to the disease phenotype of Ezra, a 3 year old male with neurodevelopmental disorder, episodes of psychomotor regression, history of macrocephaly and history of torticollis.
9. Cohen and Tibbles said that Merrick showed the following signs of Proteus syndrome : " macrocephaly; hyperostosis of the large skull; hypertrophy of long bones; and thickened skin and subcutaneous tissues, particularly of the hands and feet, including plantar hyperplasia, lipomas, and other unspecified subcutaneous masses ."
10. In their article, Bendersky and Ms . Tate say that some of the small figures show congenital deformities, including an undersize jaw or lack of a jaw altogether, conditions called micronathia and agnathia, or a disproportionate enlargement of the head, macrocephaly, which may have led to premature birth and death.