CONGENITAL LIMB ANOMALIESFigure 5. Limb <strong>anomalies</strong> due to environmental causes.a) A newborn with sirenomelia (due to vascular disruption)where both lower <strong>limb</strong>s and feet are fused, absent externalgenitalia and imperforate anus.b) A newborn with general vascular disruption presented withbilateral <strong>limb</strong> amputation (transverse reduction defect), absentright thumb and index finger, right radial hypoplasia (radial raydefect), absent external genitalia, and blue colored skin.c) Bilateral gangrene <strong>of</strong> the leg and foot due to abnormalcirculation in one <strong>of</strong> a triplet.Figure 6. Limb <strong>anomalies</strong> due to sporadic causes.a) Acheiria (transverse <strong>limb</strong> defect) in a newborn boy where theleft palm is absent and the fingers are rudimentary and presentedby digital buds (arrow), b) Tetraperomelia in a newborn boy(amputation in both upper and lower <strong>limb</strong>s), c) Bifid thumb.226Ann Saudi Med 25(3) May-June 2005 www.kfshrc.edu.sa/annals
CONGENITAL LIMB ANOMALIESassessment is fundamental to assist with counseling, asis the postnatal follow-up <strong>of</strong> the infant. e diagnosis,if made, will obviously influence the information thatwill be given to the parents and the management <strong>of</strong>the malformation, and guide recurrence risks.In conclusion, the <strong>etiological</strong> study, including thegenetic work-up, <strong>of</strong> <strong>morpho</strong>logically classified caseswith <strong>congenital</strong> <strong>limb</strong> <strong>anomalies</strong> is helpful in theprevention <strong>of</strong> many disorders causing <strong>limb</strong> defects.Prevention can be achieved via proper genetic counseling,which includes information on the etiology<strong>of</strong> the disorder (genetic or environmental), prenataldetection <strong>of</strong> <strong>limb</strong> <strong>anomalies</strong> and risk estimation forlater siblings.References1. O’Quinn JR, Hennekam RC, Jorde LB, BamshadM. 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