الفهرس 
EpidemiologyOnly 14 pages are availabe for public view
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Abstract
Limb absence or reduction defects are important group of genetic disorders which requires thorough assessment. It is not an uncommon complaint in patients referred to the genetic clinic.
The various classifications of limb reduction defects were reviewed. Temtamy and McKusick classification, which is based on both anatomical and genetic considerations, was adopted in this work and favored to all other classifications.
A detailed study of the possible causes of limb reduction defects has been performed by proper history taking including pregnancy history, three generation pedigree construction including consanguinity and other similar conditions in the family. Complete and full clinical examination of different body systems, specific examination of different parts of the limbs, anthropometric measurements and radiological evaluation were done for all cases. Karyotype, echocardiography, abdominal ultrasound were done for selected cases.
The study was carried out on 41 cases with isolated limb reduction defects including 23 males and 18 females. The age ranged from 1day to 19years.
The percentage of parental consanguinity and positive family history in the present study was 19.5% and 39%, respectively. Our observation showed an increased risk of LRD among maternal age group (26-30) and among paternal age group (36-40).
Different environmental risk factors were evaluated in this study which showed significant risk impact on limb reduction defects with maternal exposures to pesticides, insecticides and irradiation with P value (0.00), history of drug intake in the form of hormonal intake and NSAID with P value (0.001), the risk was increased among mothers who didn’t take folic acid during the 1st trimester of pregnancy with P value (0.017). Finally, early maternal trauma played a role as a risk factor for LRD with P value (0.005).
The nature of the advice provided by the individual who first informs the mother that she has given birth to an infant with a limb deformity, and the manner and skill with which it is given is critically important.
The greatest wish of a prospective mother is to deliver a beautifully developed normal baby. After delivery, the mother expects to see her baby as soon as possible. The shock and dismay and, in some instances, disbelief that she has delivered a baby with a deformity, requires that the greatest skill and understanding be employed in telling her what has happened. Consideration should be given to the technique of informing the parent, the time factors involved and the training of the physician who acts as the informant. The existence of a limb deformity should be explained briefly and the normal and positive features of the baby emphasized. The baby should be presented to the mother in such a way that her attention will be directed initially to the normal and attractive features of the infant. She should obtain a favorable reaction before the deficient limb is shown to her.
Neither the obstetrician nor the pediatrician will normally know enough about the problems of limb deficiencies and prosthetic appliances to give specific advice. A competent specialist in this area should be brought in to counsel the mother as soon as possible after the birth.
The Screening during pregnancy and improved medical technology such as Ultrasound and Genetic methods make it possible to detect some birth defects at an early stage, while they may lead to induced abortion and affect the prevalence of birth defects.
The habilitation of a newborn child with a limb deficiency should begin at the mother’s bedside and continue as an active educational program. Parental acceptance of the baby and cooperation with the clinic are necessary prerequisites to a successful habilitation program.
Emotional support of the parents is of particular importance during the early period. The manifestation of an element of guilt, subconsciously or consciously expressed, is not uncommon. The parents feel that they are in some way to blame for the defect and may cast around for all kinds of causes to which it may be attributed.
The mother is usually more affected than the father in this way. Her guilt and self reproach sometimes become overwhelming and she may become severely depressed, expressing irrational and even bizarre ideas concerning her imagined role in damaging her baby. The parents should be assured that, to the best of our knowledge, nothing they did or did not do is related to the production of the limb deformity. In extreme cases the help of a skilled psychiatrist should be sought.