Many researchers have tried to establish criteria for the evaluation of genetic counseling and the assessment of its success. Most studies focused on counseling outcomes mainly educational and reproductive variables. In the present study we introduced the concept of "perceived personal control" (PPC), which captures a wider and more meaningful range of effects of genetic counseling. It was found to be central to coping with health threats and to adapting to a broad spectrum of health problems. This study investigated 154 counseling cases. Counselees were requested to complete pre- and post-counseling questionnaires consisting of a knowledge test, measures of PPC, expectations/evaluations of counseling, and satisfaction with the procedure. Comparisons of mean PPC scores before and after counseling showed significant increases. Higher post-counseling PPC was found among counselees who had been given a definite diagnosis, a specific recurrence risk, and been offered prenatal diagnosis. Post-counseling PPC also correlated with knowledge, satisfaction, counseling evaluations, and expectation fulfillment. The findings suggest that PPC is a valid measure for the evaluation of genetic counseling outcomes. The psychometrically reliable scales developed in this study can become helpful tools for assessing genetic counseling both in research and in clinical practice, helping the counselor evaluate the counseling session and focus on the counselees' needs.

We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable.

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 syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome is thought to be transmitted as an autosomal recessive trait. The basic defect is unknown. In 1972, we (Goodman, Bat-Miriam Katznelson, and Manor) described two new genetic disorders of connective tissue which presented with camptodactyly. Recently we had the opportunity of seeing for the second time one of these syndromes in two sibs from an Arab family. The purposes of this report will be to give a detailed account of the clinical features in this syndrome and to discuss its mode of inheritance. Family studies A 20-year-old unmarried Bedouin Arab woman with multiple malformations was referred to our diagnostic clinic for evaluation. On questioning the patient about her family, two important facts became known. She stated that she had an older sister with identical features and that her parents were first cousins. The family pedigree is shown in Fig. 1. In addition to the two affected sibs and their mother, it was not possible to examine any of the other family members. The mother stated that her husband was in good health and did not have any physical defects. The mother did not know her true age but estimated that she was in her late forties. All of her children were born at home and she could not give a reliable history regarding all 13

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A girl with multiple congenital anomalies and a tendency to severe pyogenic infections was found to have an interstitial deletion of chromosome band 2q14----q21. Unusual facial manifestations included enophthalmos, long philtrum, micrognathia, narrow forehead, prominent glabella, and depressed nasal bridge. Unilateral corneal clouding, with Peters-like anomaly; agenesis of the corpus callosum; brain atrophy; and heart, kidney, hand, and dermatoglyphic anomalies were additional findings. Eye anomalies were observed in five of 22 patients with deletions of chromosome 2q. In comparing these cases, it seems that deletions of bands 2q21 and 2q31 are variably associated with microphthalmia, corneal clouding, cataracts, and Peters anomaly. Measurement of protein C and interleukin-1 (IL-1) did not show a gene dose effect, but the pyogenic infections and low IgA found in this patient may reflect an abnormality of IL-1 not detectable by our methods.

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