Congenital Craniofacial Malformations

Congenital craniofacial abnormalities are a group of defects, which are caused by abnormal growth and / or development of head and facial bones.

Many craniofacial anomalies (CFA) caused by the slippage of the first and second gill arch, which form the bones of the face and ears in the second month of embryonic development. The causes include many thousands of genetic syndromes, as well as prenatal environmental factors (eg. As use of vitamin A, valproic acid).

Congenital craniofacial abnormalities are a group of defects, which are caused by abnormal growth and / or development of head and facial bones. Many craniofacial anomalies (CFA) caused by the slippage of the first and second gill arch, which form the bones of the face and ears in the second month of embryonic development. The causes include many thousands of genetic syndromes, as well as prenatal environmental factors (eg. As use of vitamin A, valproic acid). Each of the specific congenital anomalies that can be discussed here typically be associated with many different genetic syndromes, some of which are mentioned (eg. As Treacher Collins syndrome). Due to the large number of syndromes, the discussions focused on the various structural manifestations. Detailed information about many of the specific syndromes is from the Online Mendelian Inheritance in Man ® (OMIM®) catalog genetic disorders available. As a rule, children should be evaluated with CFA on other associated physical anomalies and developmental delays that require treatment and / or may contribute to the identification of certain syndromes and causes. The identification of the underlying syndrome is important for prognosis and family counseling; a clinical geneticist, if available, can help to guide the evaluation. Macrocephaly macrocephaly (Megazephalie) is a head circumference> 3 standard deviations above the mean for age. There are two forms. In disproportionate macrocephaly the head is larger than it would be appropriate for the size of the child; the affected children are at risk for autism spectrum disorders, developmental disorder and seizures. In proportionate Macrocephaly the head seems to have a fair for the body size (d. E. The big head with a large stature associated) and a syndrome of excessive growth (eg., Growth hormone excess) should be considered. should the evaluation, a family history over three generations, a development and neurological evaluation, a check for limb asymmetry and skin lesions and an MRI of the brain include. Sometimes the disproportionate macrocephaly is familiar and not connected to other anomalies, complications or developmental delays; this form is an autosomal dominant trait, so that at least one parent has a large head circumference. Among the diagnoses that should be considered include neurofibromatosis type I, fragile X syndrome, Sotos syndrome and lysosomal storage diseases. Microcephaly microcephaly is a head circumference of <2 standard deviations below the mean for age. In microcephaly the head relative to the rest of the body is disproportionately small. Microcephaly has many chromosomal or environmental causes, including prenatal drugs, alcohol or radiation exposure, prenatal infections (eg. As TORCH [toxoplasmosis, other pathogens, rubella, cytomegalovirus and herpes simplex] and possibly Zikavirus) and poorly controlled maternal phenylketonuria. Microcephaly is also a feature of> 400 genetic syndromes. The consequences of microcephaly itself include neurological and developmental disorders (eg. As seizure disorders, mental retardation, spasticity). Microcephaly © Springer Science + Business Media var model = {thumbnailUrl: ‘/-/media/manual/professional/images/548-microcephaly-s142-springer-high_de.jpg?la=de&thn=0&mw=350’ imageUrl: ‘/ ? – / media / manual / professional / images / 548-microcephaly-s142-springer-high_de.jpg lang = en & thn = 0 ‘, title:’ microcephaly ‘description:’ u003Ca id = “v37897588 ” class = “”anchor “” u003e u003c / a u003e u003cdiv class = “”para “” u003e u003cp u003eDieses child has microcephaly with a head circumference of u003c 2 standard deviations for his age. He also has other deformations including sloping forehead

Health Life Media Team

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