1/7. The risk of birth defects: Jacobs v. Theimer and parents' right to know.This Article discusses the texas Supreme Court's holding in Jacobs v. Theimer that the parents of a defective child had a cause of action for damages against a physician for alleged negligent failure to inform the mother during pregnancy that she had contracted rubella and therefore might have a defective child, thereby causing her to lose the opportunity to have an abortion. The Article raises a number of questions that post-Jacobs courts probably will confront concerning the duty of physicians and genetic counselors to keep their clients informed; describes some social and medical developments--including recent progress in medical genetics and prenatal diagnosis--which are likely to make Jacobs a significant precedent; evaluates the court's decision to allow a damage suit only for the costs of treating and caring for the child's defects; and briefly addresses the question of whether the Jacobs case comes within the sphere of suits for what has come to be known as "wrongful birth" and "wrongful life."- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/7. Medical genetics: 3. An approach to the adult with a genetic disorder.Many genetic disorders do not manifest themselves until the adult years. Such disorders often involve multiple genetic factors interacting with multiple environmental factors, over time, to produce a phenotype. This paper reviews the modes of inheritance of genetic disorders and describes the types of genetic testing that are currently available. It offers clues that should lead physicians to suspect that an adult patient might have a genetic disorder and raises issues that should be considered in counselling the patient about genetic testing. Resources for patients and their family physicians are also discussed.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
3/7. Clinician activism and ethical restraints in providing treatment: preventive as opposed to reconstructive approaches.There is seldom controversy when faced with treatment decisions for a child born with a birth defect. Occasionally, the situation arises in which a decision to withhold treatment must be made. Under most circumstances the responsibility for making such decisions rests with the child's parents or guardians, since it is generally felt that these individuals are the best advocates for the child's best interests. In order to make such difficult decisions, the parents are dependent upon the guidance and counseling of health professionals, especially the physicians most closely involved in each case. The ultimate decisions made by parents are dependent upon open and unambiguous communication with their children's clinicians as well as open communications among the caregivers themselves. The role of the clinician as an advocate for treatment and nontreatment of children is dependent upon clear unbiased communication and the desire to do what is in the best interest for each patient.- - - - - - - - - - ranking = 0.5keywords = physician (Clic here for more details about this article) |
4/7. muir-torre syndrome: a case of this uncommon entity.A 69-year-old Hispanic woman presented for the evaluation of nodules on the head and back. In the past, she had been treated for basal cell carcinoma (BCC) of the face; the referring physician was concerned that the new lesions might also be BCC. The patient had an extensive past medical history. In addition to BCC, she had been treated for breast cancer, colon cancer, and cervical cancer prior to emigrating to the USA. Her colonic malignancy had been localized proximal to the splenic flexure. She also had a history of colonic polyps and distal colonic villous adenoma. She denied ever being treated with radiation. Further details of her medical history and cancer staging were not available. Her family history was significant for a sister with colon cancer and transitional cell carcinoma of the urinary bladder. In addition, she had a great aunt with oral cancer and a great uncle with lung cancer. Neither the patient or her relatives had any history of tobacco use. On physical examination, in addition to scars from a radical mastectomy and midline abdominal laparotomy, four skin lesions were noted: two on the scalp, one on the tragus, and one on the mid-back. The first lesion on the vertex of the scalp was a yellow-brown waxy papule measuring 0.6 x 0.5 cm. This lesion was similar to that on the mid-back, except in size. The lesion on the back measured 1.2 x 1.0 cm. The second lesion on the frontal scalp measured 0.8 x 0.6 cm and was red-brown with a pearly appearance and some central hyperkeratosis. The tragus lesion was similar in appearance to that on the frontal scalp. Shave biopsies of all lesions were obtained. The lesions on the scalp and mid-back revealed lobules of sebaceous cells in the dermis with a minority of surrounding basaloid cells, consistent with a diagnosis of sebaceous adenoma (Fig. 1). Although the lesion on the frontal scalp also showed sebaceous differentiation, there were a greater number of basaloid cells, some with hyperchromatic nuclei and mitotic figures; this was consistent with a diagnosis of sebaceous epithelioma (Fig. 2). The final lesion (tragus) was histologically consistent with a keratotic BCC. No further treatment was required for these benign sebaceous tumors, but their presence defined our patient's condition as muir-torre syndrome. Mohs' micrographic surgery was performed on the tragus BCC and the margins were tumor free in one stage. The patient returned 1 year later with a lesion anterior to the left axilla which was biopsied to rule out BCC (Fig. 3). Histologically, this lesion was also consistent with sebaceous epithelioma.- - - - - - - - - - ranking = 0.5keywords = physician (Clic here for more details about this article) |
5/7. Hereditary cranium bifidum persisting as enlarged parietal foramina (Catlin marks) on cephalometric radiographs.Cranium bifidum occultum is a rare skull ossification disorder referred to as the Catlin mark characterized by ossification defects in the parietal bones. Evidence suggests that this condition has a strong genetic heterogenicity. It is believed that, as calvarial growth continues, ossification in parietal bones fills these defects, and they can remain as parietal foramina on either side of the sagittal suture. During the conversion phase of cranium bifidum to the persistent parietal foramen, there will be periods when the brain is unprotected because of the delay in the ossification of the parietal bones. This report describes cranium bifidum occultum diagnosed as an incidental finding in a 14-year-old boy who initially had large bilateral unossified parietal bones and many congenital abnormalities. The patient underwent various surgical procedures over 6 years for the correction of cleft lip and palate. With craniofacial corrections and orthodontic treatment, the patient now has stable dentition and a firm palate with most of the parietal bones ossified. Cranioplasty was not recommended by his family physician after consultation with a neurosurgeon. Orthodontists should be familiar with this genetic abnormality because it causes delay in parietal bone ossification, and they should be able to distinguish between anatomic parietal foramina and enlarged parietal foramina (persistent unossified areas of cranium bifidum occultum), especially when craniofacial abnormalities are noticed.- - - - - - - - - - ranking = 0.5keywords = physician (Clic here for more details about this article) |
6/7. Conceiving a fetus for bone marrow donation: an ethical problem in prenatal diagnosis.We present a family who sought prenatal diagnosis in order to bear a healthy child to serve as an HLA-identical bone marrow donor for their son affected with wiskott-aldrich syndrome. They intended to abort HLA-incompatible fetuses who would have been unsuitable bone marrow donors. This case led us to conclude that prenatal diagnosis should not be used to benefit a third party or facilitate the conception or abortion of a fetus for the purpose of generating an organ for transplantation. The limits of parental autonomy and physician responsibility are discussed.- - - - - - - - - - ranking = 0.5keywords = physician (Clic here for more details about this article) |
7/7. Park v. Chessin: the continuing judicial development of the theory of "wrongful life".Park v. Chessin, a recent new york case, marked the first step toward judicial acceptance of the theory of "wrongful life." wrongful life suits involve a cause of action brought by an infant, against a physician, alleging that the physician's failure to inform the child's parents of the possibility of their bearing a severely defective child was the proximate cause of the infant's birth, and thus resulted in harm to the infant. This Note explores recent legal developments that give precedential support to the development of the theory of wrongful life. Furthermore, it demonstrates that the awarding of monetary damages is an appropriate remedy for the wrongful life plaintiff, and it examines possible methods for measuring those damages. The Note concludes with an analysis of the capability of courts to adjudicate wrongful life suits, and of the possible ramifications of judicial acceptance of the theory of wrongful life.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |