Weinstein Lovell and Winters Pediatric Orthopaedics 7e

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CHAPTER 30  |  The Child with a Limb Deficiency

by active listening first, then explaining in clear terms the nature of their child’s deficit. Obtaining a genetic consultation, even when the deficiency is not known to be hereditary or caused by teratogens, can be therapeutic in this regard, giving the parents additional reassurance. After the initial shock, parents will have many questions about their child’s future. The parents probably have never known a child or an adult with an amputation and have no frame of reference to answer these questions. Although the physician can give lengthy answers to these questions, it is important not to give them too much information all at once. The best one can do during the first visit of the parents is to gain their confidence and give them realistic hope. Fortunately, there are usually no emergent decisions to be made, and there is time to help the parents answer these questions for themselves. During this initial period, physicians need to be careful about what they tell the parents. In an effort to help the par- ents feel better, physicians can be tempted to offer false hope and mention treatments that are totally unrealistic. Physicians who do not know, or who do not wish to take on this role, should assure the parents that they are referring them to the best possible care rather than tell them not to worry and that medical science has amazing cures today. Parents will often refuse a recommendation such as an amputation (21). It is important for the treating physician to recognize the factors that affect their decision and to do his or her best to educate the parents. From the parents’ point of view, their child may have a near-normal-appearing foot and a limb that is only slightly shorter than the normal one. Likely, their child will have little difficulty walking, and the par- ents may not understand the progressive shortening that will develop with time. Along with these observations, they share the popular public belief that modern science can cure every- thing—next year, if not now. They have all heard of miraculous lengthening of limbs in the popular press, and more recently, the “successful” transfer of limbs. It can be difficult to align the parents’ expectations with reality. After the initial visit, the next several months are a good time for the parents to meet children with similar deficiencies and to see what their child might actually be like in the future. The literature demonstrates that although parents benefit from the support of friends and health professionals, they do not receive the level of support they need (22). This support is found by contact with other parents whose children have simi- lar disabilities. Meeting families and children in a similar situ- ation is comforting, makes the future seem more manageable, and is one of the most important parts of treatment for these children. In addition, the parents can see the various ­surgical options that might be recommended for their child. It can help them form realistic treatment expectations by seeing what is possible rather than reading and hearing second-hand from other sources, such as the lay press, Internet, or well-meaning friends. Because there is no need for intervention in the con- genital deficiency for a few months to years, the parents have time to learn about their child’s problem.

mechanisms by which this disruption may occur. For more details, the reader is referred to an excellent review article (18). Teratogens are an uncommon cause of limb deficiencies. Although typically thought of as medications, there are sev- eral other categories of teratogens during pregnancy, including maternal illnesses, medical diagnostic procedures, or trauma. To establish if a particular exposing agent is a teratogen, it should exhibit a dose–response relationship with the defect in question, and it should exhibit a period of greatest sensitiv- ity. Thalidomide, an antinausea medication used in pregnant women in the 1950s and more recently as a chemotherapy agent, caused typical limb deficiencies during a narrow win- dow maternal exposure (between 40 and 44 days postcon- ception). It remains one of the most well-defined teratogenic agents causing limb deficiency. Other drugs are known to affect limb morphogenesis, such as warfarin, phenytoin, and valproic acid. Phenytoin and misoprostol have been shown to affect the vascularity of a previously normally developed fetal limb (19). Retinoic acid and its related metabolites have an effect on limb bud development and cause a wide range of limb malforma- tions in experimental models, which are described in an excel- lent review article (16). Almost all of the potential causes of limb deficiency previ- ously described can and do affect other organ systems, often in recognizable patterns. This is an important fact for the treating physician, who should perform a thorough examination for other abnormalities and any heritable genetic defect should be identified. A knowledge of syndromes with limb deficiencies will help the physician look for associated abnormalities and enlist the help of other relevant medical subspecialists when appropriate. The Parents.  When a child with a congenital deformity or congenital amputation first presents, it is the parents who will need the most attention. Although surgical treatment of the child’s deficiency is not urgent, the parent’s emotions and expectations of treatment understandably take on an urgent tone. Unless prenatal ultrasound detected the deficiency, their child’s situation is unexpected and begins a grief cycle not unlike that described by the Swiss physician, Elisabeth Kubler- Ross (20). It is this dynamic that the physician, who is likely meeting the family for the first time, must negotiate. In gen- eral, the physician’s responsibility over the next several months is both to suggest treatment according to the best medical stan- dards and to guide the parents through the grief cycle. Parents will initially feel shock and helplessness, which can manifest as feelings of guilt. What did I take or do during my pregnancy to cause this? In many families, there will be a strong desire to know “why this happened.” It is a time of anticipated joy that has turned into a period of great stress for both the individuals and, often, the marriage. The initial patient visit is important in establishing a positive doctor–patient relationship PSYCHOSOCIAL ASPECTS IN LIMB DEFICIENCY PATIENTS