No abstract

Patient satisfaction has become a significant issue in evaluating medical care, although it has been largely neglected in genetic counseling. A 32-item questionnaire was designed to examine patient satisfaction and was administered to 76 clients in a genetic counseling center, and 56 parents attending a pediatric outpatient clinic (the control group). Factor analysis showed 3 dimensions to satisfaction with genetic counseling: instrumental, affective, and procedural. The general level of satisfaction was found to be lower in the genetic counseling group than in the control group. This finding was interpreted as expressing basic properties of genetic counseling. The most important determinant of satisfaction in both groups was satisfaction with the content of information provided in counseling. Some affective and procedural aspects of genetic counseling were found more satisfying, and more important in determining genetic clients' general sense of satisfaction, as compared to the control subjects.

No abstract

SUMMARY A second family with the autosomal recessive disorder now referred to as the limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.In 1985, Al-Awadi et all first briefly reported on two Arab sibs of consanguineous parents with a newly recognised skeletal dysplasia disorder, consisting of profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence.The purpose of this report is to describe and to discuss in detail a second affected consanguineous family with three affected offspring (the proband *and the two aborted fetuses) with this disorder, which we now call the limb/pelvis-hypoplasia/aplasia syndrome. Our reasons for renaming this condition will be discussed. Case reportsThe proband (fig 1) three abnormally shaped digits on each hand. The lower extremities showed severe phocomelic changes with absence of the feet. The external genitalia were displaced upwards. The penis appeared normal, but the scrotum was hypoplastic with bilateral cryptorchidism (fig 2). No other physical findings were noted. No definite diagnosis was made at that time but the parents were advised that, because of their consanguinity, they might be at risk for having similarly affected children. Furthermore, because of the severity of the malformations, it was suggested that all future pregnancies should be monitored by means of ultrasound, as there was a good chance At approximately one year of age, the proband was placed in a hospital for crippled children (Alyn Hospital, Jerusalem) and this is where he currently resides. He is at present four and a half years old, his weight is 11*5 kg (<3rd centile), and he has a head circumference of 49 cm (>2nd centile). Physical examination at this time showed a boy with normal facies except for a pointed chin and long ears. His state of alertness and intelligence appeared to be normal for his age.The upper limbs were short and symmetrically involved. Both elbow joints showed a flexion contracture deformity. His forearms were shortened and the wrist joints were very mobile. There was bilateral ectrodactyly of the hands, each having two fingers and a thumb, and all digits were malformed. The pelvis was grossly deformed. As commented upon previously, the external genitalia were displaced upwards and the scrotum appeared hypoplastic. Both testes were in the inguinal canal despite the fact that at three years of age he had had orchidopexy. Dermatoglyphic findings showed marked distortion of the digital and palmar prints, since only three digits were present on both hands. The left palm had only an axial triradius and one palmar crease was present. On the right palm there was one common triradius for digits II and III. No other triradii were present. On both palms there were many fine, small creases with no specific shape or direction. The left hand had a wh...

A family in which two generations have a rare and previously undescribed form of nail dysplasia with bone abnormalities is reported. This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia of the distal phalanges of the hands and feet. The probable mode of transmission is autosomal dominant.