holoprosencephaly การใช้

• Holoprosencephaly is the most common structural anomaly of the human forebrain.
• Holoprosencephaly has been reported in some people with ring 18.
• Failure of Shh-modulated differentiation causes holoprosencephaly.
• Holoprosencephaly consists of a spectrum of defects or malformations of the brain and face.
• These individuals may have had holoprosencephaly, which is frequently associated with severe impairment.
• "We need to learn first how come your child has holoprosencephaly,"
• Hydrocephalus and holoprosencephaly were present in all.
• There is no treatment for holoprosencephaly and the prognosis for individuals with the disorder is poor.
• Mutations in " PTCH1 " cause Gorlin syndrome and mutations have also been found in holoprosencephaly patients.
• Mutations in SIX3 are the cause of a severe brain malformation, called holoprosencephaly type 2 ( HPE2 ).
• Although the causes of most cases of holoprosencephaly remain unknown, some may be due to dominant or chromosome causes.
• Genetic counseling and genetic testing, such as amniocentesis, is usually offered during a pregnancy if holoprosencephaly is detected.
• Another physician that I know had a routine ultrasound during her second pregnancy that correctly discovered a severe brain malformation termed holoprosencephaly.
• Such chromosomal anomalies as trisomy 13 and trisomy 18 have been found in association with holoprosencephaly, or other neural tube defects.
• It is possible that improved management of diabetic pregnancies may help prevent holoprosencephaly, however there is no means of primary prevention.
• Neuroradiologically, intracranial malformations associated with septo-optic dysplasia include agenesis of the septum pellucidum, schizencephaly, and lobar holoprosencephaly.
• Recent work has identified mutations in the hedgehog acyltransferase ( HHAT ) gene that have caused acrania along with holoprosencephaly and agnathia.
• These Fat1 knockout mice also showed partially penetrant but often severe midline defects including holoprosencephaly, microphthalmia-anophthalmia and in rare cases cyclopia.
• Penetrance is incomplete, meaning that a deletion of one copy of this gene is not in and of itself sufficient to cause holoprosencephaly.
• If no cause is identified and the fetal chromosomes are normal, the chance to have another pregnancy affected with holoprosencephaly is about 6 %.