The currently used classifications of congenital anomalies of the upper limb is based on that of Swanson. Two main forms of classifications were used widely i) morphologic and ii) casual. Treatment for those that survive depends upon the presence and severity of the associated symptoms and may require the coordinated efforts of a team of specialists. The condition has been associated with a mutation in the WNT3 gene in one family, and it appears to be inherited in an autosomal recessive manner.
2Īs children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. ("Tetra" is the Greek word for "four" and "amelia" refers to the failure to develop before birth of an arm or leg). Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. 1 Localized malformations of the limbs include absence of bones, extra bones, hypoplastic bones and fusions. Micromelia represents abnormally short extremities. Meromelia, includes i) almost complete absence with a mere stub remaining is called phocomelia and ii) partial absence of a limb is called ectromelia. Tetra-amelia syndrome (TAS) means absence of all four limbs associated with anomalies of CVS, CNS, GIT, urogenital, craniofacial or respiratory system. Limb anomalies vary greatly, and presented as complete (Amelia) or partial (meromelia) absence of one or more of the extremities. Palabras clave: síndrome de tetraamelia, mortinato, trastornos genéticos, malformaciones. La educación para la salud adecuada, la pesquisa prenatal y el consejo genético pueden reducir el riesgo de estas anomalías congénitas. Se discute la correlación embriónica del caso. El feto falleció poco después de su nacimiento. Los antecedentes maternos no revelaron detalles considerable. Presentó ausencia total de las 4 extremidades unido a labio leporino, paladar hendido del lado derecho. Se informa el caso clínico de un mortinato del sexo masculine con el síndrome de tetraamelia, que mostró ausencia de las cuatro extremidades, unido a anomalías craneofaciales y agenesis pulmonar. Key words: tetra-amelia syndrome, still born, genetic disorders, malformations. Proper health education, antenatal screening and genetic counseling can reduce the risk of such congenital anomalies. The embryonic correlation of the case is discussed. The mother medical history revealed no remarkable details. It presented complete absence of all four limbs in association with cleft lip and palate on the right side. A still born male baby with tetra-amelia syndrome is reported, with craniofacial abnormalities and pulmonary agenesis.
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