Holoprosencephaly

Holoprosencephaly

Abstract : The purpose of this research study was to increase understanding of the genetic and clinical manifestations of HPE through detailed physical , psychological , developmental , neurologic endocrinologic and radiologic studies . Moreover , to learn about classifications , symptoms , diagnosis , treatment and clinical studies conducted for Holoprosencephaly HPE . It is a relatively common birth defect of the brain , which often affect the facial features , including closely spaced eyes , small head size , and sometimes clefts of the lip and roof of the mouth , as well as other birth defects . This birth defect occurs soon

after conception . It has a prevalence of 1 in 250 during early embryo development , and 1 in 10 ,000 to 1 in 20 ,000 at term Conclusion : Ultrasound is an important method for diagnosis of HE Treatment is symptomatic and supportive . The prognosis for individuals with the dis depends on the severity of the brain and facial deformities . A critical nutritional deficiency or exposure to an environmental insult during the first month of pregnancy (when the neural tube is formed ) can produce neural tube defects such as anencephaly . Cystic hygroma and hydrops fetalis are rare associations Understanding how genes control brain cell migration , proliferation differentiation , and death , and how radiation , drugs , toxins infections , and other factors disrupt these processes will aid in preventing many congenital neurological diss

Introduction : Holoprosencephaly is a dis caused by the failure of the prosencephalon the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres . The result is a single-lobed brain structure and severe skull and facial defects . In most cases of holoprosencephaly , the malformations are so severe that babies die before birth . In less severe cases , babies are born with normal or near-normal brain development and facial deformities that may affect the eyes , nose , and upper lip . Not all individuals with HPE are affected to the same degree , even in families where more than one individual has this predisposition . The risk of reoccurrence is small in most families . There are a number of causes of HPE , including genetic alterations and environmental effects . The cause of HPE in any individual family is often unknown . There are three classifications of holoprosencephaly (NINDS

Alobar in which the brain has not divided at all , is usually associated with severe facial deformities . Semilobar in which the brain 's hemispheres have somewhat divided , causes an intermediate form of the dis . Lobar in which there is considerable evidence of separate brain hemispheres , is the least severe form . In some cases of lobar holoprosencephaly , the baby 's brain may be nearly normal

The least severe of the facial anomalies is the median cleft lip called premaxillary agenesis . The most severe is cyclopia , an abnormality characterized by a single eye located in the area normally occupied by the root of the nose , and a missing nose or a proboscis a tubular-shaped nose located above the eye . The least common facial anomaly is ethmocephaly , in which a proboscis separates closely set eyes Cebocephaly , another facial anomaly , is characterized by a small...