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Congenital Malformation

Kelainan Kongenital
Congenital malformation are probably responsible for 10-20 percent of the deaths
of fetuses and infant weighting more than 500mg, and dying in utero or during the
neonatal period. They are also an important cause of intrauterine deaths during the
first trimester of pregnancy and for many instances of crippling and death months
or years after birth.

Congenital malformation are not necessarily inherited traits. They may result from
abnormal environment conditions acting on a genetically normal embryo or they
may result from genetic abnormalities in the presence of apparently normal
intrauterine environmental conditions.
Maternal rubella especially during the first trimester of pregnancy is a recognized
cause of certain congenital malformations in infants. Toxoplasmosis also may be
responsible for severe intrauterine disease, but there is no conclusive evidence that
is cause congenital malformations as a result of impaired early cerebral
development.
Certain congenital defects are obviously hereditary, determined by factors
transmitted through the germ cells. Some follow a simple mendelian pattern of
transmission for example, hydrocephalus, cataract, cleftpalate, chondrodystrophy,
polydactylism, and brachydactylism. However, it should not be inferred that all
such defects are genetically determined, since clinically indistinguishable
malformations may also result from adverse environmental factors in utero. In
some instance, moreover, environmental factors may influence the manifestations
of genetic defects, both factors playing a role in a specific defect.
Recently two dramatic factors in the etiology of malformations have appeared :
effect of drugs such as thalidomide and the relationship of chromosomal
aberration and structural malformation.
The first of these, The role of thalidomide in the production of phocomelia. A new
clinical syndrome had appeared of which the outstanding features was phocamelia
or seal extremities. In this syndrome the bones between the hands and shoulder
are defective or absent and the hands or rudimentary fingers derive directly from
the ends of the effected bones as do the flippers of a seal.
The second recent major contribution to the etiology of congenital malformations
is the role of chromosomal aberration in relation to structural malformations.

Hydrocephalus may result from obstruction of the subarachnoid path ways by the
bulk of tissue present in the foramen magnum .in other instances hydrocephalus
result from an associated anomaly of the aqueduct of sylvius.
Myeloschisis refers to severe malformation of the spinal cord associated with
spina bifida. An omphalocele result from failure of the intestine to return to the
abdominal cavity after its normal occupancy of the umbilical cord during
embryonic life. Congenital diaphragmatic hernia, the defect usually results from
failure of the pleuroperitoneal fold to complete the separation between the
peritoneal and pleural cavities.
Meconium ileus occurs as a relatively inhequent manifestation of cystic fibrosis
of the pancreas in the newborn infant. Large amounts of thick,tenacious,putty
like meconium accumulate in the intestine,expecially in the distal 10-2-cm. the
clinical manifestations of meconium ileus are those of congenital intestinal
obstruction,sometimes associated with perforation of the bowel. Severe abdominal
distention and persistent vomiting occure early and are usually associated with
failure to pass any meconium.
Meconium peritonitis occurs most often as a complication of meconium ileus but
may also result from intrauterine or early neonatal perforation of the intestine
secondary to other causes.
Congenital aganglionic megacolon may be manifest in the very early neonatal
period by failure to pass meconium or by vomiting, constipation and abdominal
distention during the first week of life.