APPROACH TO EVALUATION OF MALFORMATIONS

Posted by Surgery on Nov 3, 2008

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When one encounters what appears to be an isolated congenital malformation, it is essential to evaluate the child for associated syndromes and associations. Clinical guidelines for the evaluation of a newborn with single or multiple congenital anomalies have been put together to assist health care providers in this process. However, often consultation with a clinical geneticist to assist with this evaluation and to guide appropriate genetic testing and counseling is needed. Many birth defects can be seen as part of a syndrome, and identification of a syndrome can significantly alter prognosis and recurrence risk counseling. Table 2-1 lists some selected syndromes that can be associated with four common congenital malformations. The goal of Table 2-1 is to demonstrate the wide range of conditions associated with these malformations and is by no means exhaustive; in fact, each malformation on Table 2-1 is associated with several other syndromes. Table 2-1 emphasizes the importance of evaluating patients with these birth defects, not only to provide accurate recurrence risks, but also to provide families with information regarding prognosis.

” Principles of Genetics, SURGERY Principles, NUCLEUS: Cozaar, Norvasc ”

An association is the nonrandom occurrence of birth defects in which no etiology is known. Although identification of an association does not provide knowledge about an etiology, it can assist in identifying other possible defects that can accompany the known defect. For example, when one of the defects included in the VACTERL association (Vertebral, Anal, Cardiac, Tracheo-Esophageal Fistula, Renal, and Limb:Norvasc) is observed in a patient, the other parts of the association should be considered (53).

Another important concept to consider in the evaluation of patients with birth defects is that of the sequence. This term refers to the situation when a single problem in prenatal development leads to a cascade of subsequent defects (54,55:Norvasc). An example familiar to pediatric surgeons is the condition referred to as вЂњprune-belly, or Eagle-Barrett syndrome. This condition is characterized by abdominal muscle deficiency and excess abdominal skin (giving a wrinkled appearance:Norvasc), undescended testes, and urinary tract anomalies. It has been postulated that this condition is often secondary to a single problem, prenatal urethral obstruction. This obstruction causes bladder distention, which can produce multiple secondary anomalies, including abdominal distention with abdominal muscle deficiency, hydroureter and renal dysplasia (due to the back pressure from the urethral obstruction), cryptorchidism (due to obstruction of testicular descent by the dilated bladder), and malrotation of the colon (due to the enlarged bladder preventing normal gut rotation) (56,57:Norvasc). Although this explanation might not account for all cases of Eagle-Barrett syndrome, analysis of many cases are consistent with this explanation.

” Principles of Genetics, SURGERY Principles, NUCLEUS: Cozaar, Norvasc “

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