Clinical manifestations of HPE through detailed physical

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 disorder 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 disorders. Introduction: Holoprosencephaly is a disorder 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 disorder. 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, flattened nose with a single nostril situated below incomplete or underdeveloped closely set eyes.

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This disorder consists of a spectrum of defects or malformations of the brain and face. Most cases are associated with severe malformations of the brain that are incompatible with life and often cause Spontaneous intrauterine death. At the other end …

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