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A small clinical survey was undertaken at East Carolina University School of Medicine to examine the factors which influenced the decisions of five families to continue pregnancies after a chromosomal abnormality was detected. Little has been published concerning the psychosocial effects after continuing pregnancies in which the fetus was diagnosed with a chromosome abnormality by amniocentesis. In order to identify the factors that influenced their decisions, an interview with each couple was undertaken using a 25-part questionnaire. This paper addresses the method of interviewing, case material, and background concerning each couple and the summary of the results.

Since the first description of chondroectodermal dysplasia by Ellis and van Creveld in 1940,1 approximately 32 cases of this syndrome have been reported in the literature. Recent articles2-5 have reviewed the literature and discussed the salient features of the disease. Characteristically, there is ectodermal dysplasia, chondrodysplasia, and polydactyly, with or without associated congenital heart lesions and other defects.This report is concerned with the 33d case to be described and the results of chromosome analysis done on this patient. To our knowledge there have been no previous reports of chromosome studies in a patient with this syndrome. REPORT OF CASE A 3½-year-old white female of Italian descent, was admitted to the Jersey City Medical Center, N.J., on March 8, 1961 because of fever and respiratory distress of 24 hours' duration.Past History.—This patient was the product of a normal full-term pregnancy and delivery; birth weight was 2,778

WITH THE recent dramatic advances in medical genetics and the increased interest in genetic counseling, most physicians have lost sight of the fact that they have been involved with genetic evaluations in the private practice of medicine for many years. Essentially, all human beings have normal physical characteristics that have been developed as the result of the interaction between small contributions by multiple genes and the environment. These multiplegene or polygenic multifactorial inheritance patterns have always been noted by lay persons as well as physicians. Both groups expect short parents to produce short children and large parents to produce large children. We expect obese individuals to have family histories of obesity. Characteristics such as height, weight, head circumference, lean body mass, intelligence, and age of sexual maturation represent this polygenic endowment interacting with one's environment. The standards that we physicians use for normalcy are derived from studies of groups of

A two-year-old Negro-South American girl presented with juvenile laryngeal papilloma which necessitated an emergency tracheostomy. During the next 1½ years of hospitalization, she required general anesthesia for surgical excision of recurrent growths on an average of once every 3.7 weeks. Inasmuch as the process continued unabated, autogenous vaccine prepared from her tumor was administered by 15 weekly injections. There was an apparent dramatic beneficial response with vocalization around the tracheostomy tube occurring for the first time within two months of the start of vaccine therapy. Tumor growth regressed completely, the tracheostomy tube was removed within six months of the utilization of vaccine treatment and the patient was discharged after two years of hospitalization.

RUBINSTEIN and Taybi1 in 1963, defined a syndrome seen in seven unrelated patients who were mentally retarded. These children had broad thumbs and toes and facial abnormalities. Subsequently, Coffin2 reported six more patients with similar findings. In 1965, Taybi and Rubinstein3 described an additional six new cases, and cited personal knowledge regarding more than 24 other cases.Other physical, as well as radiologic, abnormalities have been noted in these patients, but extensive biochemical and cytogenetic studies1,2 have been normal. Almost all the children attained an ability to walk with a typically abnormal gait and almost all who were defined by case descriptions had poor speech development. Gross hearing defects have not been elicited.It is the purpose of this report to describe another patient with Rubinstein-Taybi syndrome who, in addition, had complete lack of expressive language as described in one previous patient (Patient 5 of Rubinstein

This book had its origins in courses given at Memorial Sloan-Kettering Cancer Center, New York, in 1980 and 1982. It is divided into two sections, with slightly more than half of the book devoted to the fundamental aspects of neoplasia and the inheritable factors that increase susceptibility to the disease. The latter part of the book concerns the applications of that basic knowledge to clinical aspects of oncology. The volume assumes that the reader has some degree of familiarity with basic genetic principles, oncology, cytogenetics, and the influence of environmental agents in the manifestation of certain neoplastic syndromes. The basic premise, to paraphrase Dr German, is that cancer cells are members of clones of somatic cells that have undergone one or several mutations. However, factors inherited from generation to generation influence the likelihood of such somatic mutations transforming into neoplasia. The varied elements that enter into the mechanism of cancer

DENOUEMENT AND DISCUSSION SHORT-RIB POLYDACTYLY DWARFISM: SALDINO-NOONAN TYPE MANIFESTATIONS The consistent anomalies present in the Saldino-Noonan type of short rib polydactyly dwarfism are hydropic appearance at birth, micromelia, polydactyly, and a narrow thorax. Growth retardation, small weight for gestational age, and decrease in heel-crown length are often present. The characteristic skeletal deformities include short, horizontally-oriented ribs, short tubular bones with metaphyseal dysplasia, small iliac bones, horizontal acetabulae, and premature ossification of epiphyses.Pulmonary hypoplasia is the most common visceral anomaly and next in frequency are anomalies associated with the gastrointestinal tract, which include persistent cloaca, imperforate anus, atresia and/or malrotation of the bowel, and short bowel. Cardiovascular anomalies include transposition, coarctation of the aorta, ventricular septal defects, double-outlet left ventricle, and hypoplastic aortic arch. Renal and genital anomalies are seen less frequently.Based on skeletal criteria, short-rib polydactyly dwarfism has been classified into two distinct types: the Majewski type and

This book is a collection of the papers presented at a conference held in San Francisco sponsored by the Department of Pediatrics, University of California at Los Angeles (UCLA), Harbor-UCLA Medical Center, and the Institute for Pediatric Service of Johnson and Johnson Baby Products Company. The chapters were written by outstanding workers in their respective specialty areas, and, as is expected in such a collection, there is variability in the literary style and content of each presentation.There is little overlap of the material, and Dr Kaback has performed an excellent editorial service in presenting it in five sections. Section 1 on hereditary diseases and congenital defects offers a review of Mendelian inheritance, multifactorial disease, autosomal and sex chromosomal abnormalities, and some epidemiology and information on the incidence of birth defects. Section 2 is concerned with birth defects and heritable disorders in the neonate, infant, and child and includes discussions

This book is a review of recombinant DNA techniques and their industrial applications for the production of pharmaceuticals, industrial chemicals, and agricultural bacterial aids. The authors offer simplified schemata of recombinant DNA techniques in a lucid and intelligible fashion. Those particular chapters are therefore of interest to lay persons and to the few physicians who have not been involved in observing the growth of this area of knowledge.Much of the volume, however, is devoted to relating anecdotes concerning the business aspects of the companies that have been developed, eg, patent legalities, trade secrets, engineering, and gossip about the individuals from the academic world who have become business entrepreneurs, as well as comments about their technical abilities in various aspects of new biotechnology.Unfortunately, there are a few sections with unintelligible sentences and paragraphs, eg, pages 81 and 87, that indicate a lack of thorough proofreading. The volume can be

This two-volume textbook of medical genetics is an absolutely superb compilation of all aspects of medical genetic disorders. The editors have assembled contributors in numerous areas of genetics, who, for the most part, present their material in a lucid and thorough fashion.The books are divided into four sections devoted to basic principles, chromosome disorders, system disorders (the largest), and applied genetics. Most of the system disorders are described in terms of inheritance patterns, the natural clinical history of the disease, differential diagnosis, and therapy, where applicable. The tabulations of the conditions, especially those skeletal, neuromuscular, and craniofacial in nature, are worth the "price of admission." Many clinical photographs are included and are helpful to the practitioner. References in each chapter are complete, from those of historical interest to those of more recent vintage, including 1980 to 1982.Considering the number of subjects and authors, the editors have done excellent

During a cytogenetic investigation of adult narcotic addicts and their newborn offspring, a female infant with a 45,X karyotype was born to a woman who used heroin and cocaine. The baby had multiple features consistent with the Turner's syndrome phenotype, with the additional findings of bilaterally absent fifth toes. This infant was one of 30 offspring of drug addicts, and while this case might represent a fortuitous circumstance, the possibility of increased incidence of newborn chromosomal aberration with parental drug addiction must be considered.

THE DANGERS of femoral venipuncture have been poorly appreciated. Admittedly, there are few documented instances of complications among the countless venipunctures performed on pediatric patients. In a review of the recent literature only two cases of gangrene of the lower extremities1 and one case of arteriovenous fistula following venipuncture2 were found. However it is not rare for transient cyanosis of the lower extremities to occur after femoral venipuncture. The transient changes are attributed to vascular spasm, but persistence of this spasm may be an important factor in causing the irreversible changes that lead to gangrene. This process of irreversible change may be averted by prompt arteriotomy with exploration of the artery when the abnormal appearance of the extremity persists and fails to respond to local measures. REPORT OF A CASE A 2-week-old white male infant was brought to the Margaret Hague Maternity Hospital on July 31, 1964 for

ACRIDINE ORANGE (AO) stain and fluorescence microscopy have been widely used for the evaluation of gynecologic exfoliative cytology.1,2 Basically, it has been noted that the desoxyribonucleic acid (DNA) of the nucleus of a cell fluoresces with a yellowish-green color and that the cytoplasmic ribonucleic acid (RNA) appears orange-pink in color. The pH of the stain affects the colors visualized.Although there has been some conflict as to whether neoplastic cells can be adequately evaluated by AO technique, other pertinent observations have been made. Red blood cells do not fluoresce and thus do not interfere with examination of the specimen.2 Microorganisms, on the other hand, do fluoresce with a bright orange-red color, which vividly contrasts with the colors of DNA and RNA. If sufficient organisms are present, they may actually interfere with accurate cytologic visualization.2 Along these lines, the AO method has been used for the diagnosis of

This book is based on a meeting and symposium by acknowledged eminent genetic experts who were convened by the Councils of the National Academy of Sciences and the Institute of Medicine in October 1986. The purpose was to delineate the level of the science of gene therapy, additional technical difficulties to be mastered, and the public policy process needed prior to any efforts to apply gene therapy. The symposium title was "Human Somatic Cell Gene Therapy: Prospects for Treating Inherited Diseases." This book summarizes the presentations at the meeting and subsequent workshop, and the author provides acknowledgment of the contributions of each of the principal speakers at the conclusion of each chapter.This small volume is extremely well written, and the reader should not be deterred by the minimal, initial melodramatic approach, which might have been designed to capture the attention of nonprofessional persons, eg, "The baby's caesarean birth—on December

It was a great pleasure for me to examine a definitive work in the field of fetal genetic disorders, which has been written in an easily readable and literate style. The majority of the chapters are thorough in the treatment of particular subjects. All follow the format of an excellent, complete but succinct review of previous literature in a style reminiscent of the Lancet. Subsequently, there are extensive and lucid (ie, no inbred technical jargon) descriptions of the basic techniques utilized, be they cytogenetic, biochemical, molecular, or ultrasonographic. For the most part, the sections are followed by discussions of clinical applications of these techniques for prenatal diagnosis and the limitations of such use.Most of the book is devoted to the diagnosis of fetal genetic disorders rather than the limited available measures for treatment, but there is excellent coverage in the few areas where prevention and treatment other than pregnancy

PARGYLINE HYDROCHLORIDE (Eutonyl) is a nonhydrazine monamine oxidase inhibitor (MAOI) with a pharmacological property of lowering blood pressures. While exerting its antihypertensive activity, it has been noted to have a moodelevating effect, without any depressant qualities. The full activity develops slowly and is maintained for some time after the drug is discontinued. Troublesome side effects have included postural hypotension, constipation, insomnia, nervousness, sweating, dryness of the mouth, nightmares, headaches, nausea and vomiting. Unusual side effects have been impotence, an increase in appetite, pedal edema, and arthralgia.1 As with other MAOIs, sevveral patients have had hypertensive reactions following ingestion of ripe or aged cheeses.2 Reports of serious overdosages were nonexistent until recently.3 The following is a description of intoxication with this agent in a 21/2-year-old child.Report of a CaseA 21/2-year-old Negro girl was admitted to the Jersey City Medical Center approximately 15 hours after ingesting six