Search results
Results From The WOW.Com Content Network
Microcephaly was present in 7 children from a group of 11 pregnant women at 11–17 weeks of gestation who survived the blast at less than 1.2 km (0.75 mi) from ground zero. [57] Due to their proximity to the bomb, the pregnant women's in utero children received a biologically significant radiation dose that was relatively high due to the ...
Clinically, patients present with microcephaly and significant developmental delay. While some patients may be able to walk, others may not due to spasticity of limbs and hypotonic muscle tone, with progressive degeneration over time. Patients may also present with seizures, ranging from single febrile seizure to intractable epilepsy.
Consequently, achalasia microcephaly, which has a familial predisposition, is an extremely rare syndrome. Current cases of achalasia microcephaly have only implicated children in its pathogenesis and there are only five, separate, known cases as of 2017. These cases involve a total of nine children, where each case refers to individual affected ...
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA); X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked intellectual disability–microcephaly–pontocerebellar hypoplasia syndrome; and by variations of these terms ...
Certain mutations in MCPH1, when homozygous, cause primary microcephaly—a severely diminished brain. [ 5 ] [ 6 ] [ 7 ] Hence, it has been assumed that variants have a role in brain development. [ 8 ] [ 9 ] However, in normal individuals no effect on mental ability or behavior has yet been demonstrated in either this or another similarly ...
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6-18 months of age and almost exclusively in girls. [4] Symptoms include impairments in language and coordination, and repetitive movements. [4]
Causes defects of genes on chromosome 3 and 18. Seckel syndrome , or microcephalic primordial dwarfism (also known as bird-headed dwarfism , Harper's syndrome , Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [ 1 ] ) is an extremely rare congenital nanosomic disorder.
Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms.