macrocephaly การใช้

• Relationships have been found between autism, duplications of chromosomes, and macrocephaly on one side.
• A rare case of colpocephaly is described in literature which is associated with macrocephaly instead of microcephaly.
• They have physical abnormalities including a large head ( macrocephaly ), sparse hair, prominent scalp veins, dysmorphism.
• Another relation between macrocephaly with duplications and microcephaly with deletions has been seen in research on the HYDIN Paralog or HYDIN2.
• Clinical features shared by both syndromes include overgrowth in early development, advanced bone age, developmental delay, and prominent macrocephaly.
• The aspect of the size and development of the brain is related to autism ( macrocephaly ) and schizophrenia ( microcephaly ).
• "PIK3CA "-associated segmental overgrowth includes brain disorders such as macrocephaly-capillary malformation ( MCAP ) and hemimegalencephaly.
• Common features shared by both LFS and FGS include X-linked intellectual disability, hyperactivity, macrocephaly, corpus callosum agenesis and hypotonia.
• Macrocephaly can be an indicator of increased risk for some types of cancer in individuals who carry the genetic mutation that causes Cowden syndrome.
• Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head ( macrocephaly ).
• Patients with L-2-hydroxyglutaric aciduria are associated with moderate to severe mental retardation, psychomotor retardation, cerebellar ataxia, macrocephaly, or epilepsy.
• This disorder is also characterized by widely spaced eyes ( ocular hypertelorism ), an abnormally large head size ( macrocephaly ), and a high, prominent forehead.
• Mutations in this gene can cause mental retardation or permanent paralysis X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly.
• Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
• Additional signs and symptoms of Cowden syndrome can include an enlarged head ( macrocephaly ), a rare noncancerous brain tumor called Lhermitte-Duclos disease, and glycogenic acanthosis of the esophagus.
• It is characterized by polyhydramnios and fetal overgrowth, including macrocephaly, neonatal macrosomia, visceromegaly, dysmorphic facial features, and an increased risk for Wilms'tumor at an early age.
• Of all 1q21 sequences tested, DUF1220 sequences were the only ones to show consistent correlation between copy number and brain size in both disease ( micro / macrocephaly ) and non-disease populations.
• "' Macrocephaly-capillary malformation "'( M-CM ) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, vascular, neurologic, and limb abnormalities.
• Other findings that have been reported include macrocephaly ( 95 % ), large fontanelle, prominent forehead, flattening of the nasal bridge ( saddleback nose ), short and thick extremities, and finger clubbing.
• Two independent reports have linked reciprocal 1q21.1 deletions and duplications in this region with microcephaly and macrocephaly, respectively, raising the possibility that DUF1220 copy number may be involved in influencing human brain size.