Further delineation of the C (trigonocephaly) syndrome.

This communication brings the number of recognized cases of the C (trigonocephaly) syndrome to 11. The pattern of findings includes an anomaly of the anterior cranium and frontal cortex (trigonocephaly), the root of the nose (broad nasal bridge, epicanthus, and short nose), and palate (thick anterior alveolar ridges); abnormalities of the limbs (polysyndactyly, bridged palmar creases, short limbs, and joint dislocations and/or contractures); visceral defects (congenital heart defects, cryptorchidism, and abnormal lobulations of the lungs and kidneys). Auricular, mandibular, skin, and genital abnormalities also occur.

Genetic counseling: a comparison of counselee's genetic knowledge before and after (Part III).

Forty-seven mothers of children with Down syndrome were evaluated on their knowledge of genetic facts pertaining to Down syndrome. We found that more knowledge of this disorder was acquired by counselees before counseling than from counseling. The data show that counseling is most effective in enhancing counselees' knowledge of general genetics, ie, the origin of the extra chromosome in a child with Down syndrome.

The syndrome of multisynostotic osteodysgenesis with long-bone fractures.

Described here are two patients with a newly recognized syndrome of bone and cartilage maldevelopment which, we believe, results from a single embryonic defect, probably of genetic origin. The cardinal manifestations of this association are craniosynostosis, radiohumeral synostosis (RHS), and femoral bowing. Specific secondary defects include midface hypoplasia with characteristic facial appearance and ears, neonatal femoral fractures, and multiple minor anomalies of the limbs.

The determinants of mothers' knowledge of the Down syndrome before genetic counseling: part II.

Mothers coming for genetic counseling because they have an infant with the Down syndrome (DS) vary in their amount of knowledge about the cause, recurrence risk, and options for dealing with the recurrence risk. The purpose of this work has been to determine some predictors of the variability in mothers' knowledge of the DS before coming to genetic counseling. Data were collected before counseling through a detailed interview concerning mothers' knowledge of the DS, their demographic background, fertility plan, and attitude toward family planing.

A detailed description of mothers' knowledge before genetic counseling for Down syndrome: Part I.

This study focuses on counselees' knowledge of the Down syndrome before receiving genetic counseling. Data were collected from 47 mothers of children with the Down syndrome using a structured interview of 13 open-ended questions. This instrument was found to be both internally reliable and consistent.

Development of instruments to measure counselees' knowledge of Down syndrome.

Since approximately 10% of counselees coming to genetics clinics are concerned with Down syndrome, the development of short measures of knowledge of Down syndrome for evaluation could have widespread application. The purpose of this study was to design efficient, self-administered questionnaires of simple vocabulary to measure knowledge and understanding of Down syndrome before and after genetic counseling. Twenty-six previously piloted questions were administered to nurses, graduate students in Medical Genetics, special education teachers, and parents of children with Down syndrome (n = 126).

Psychological responses to genetic counseling for Down's syndrome.

To assess some of the emotional aspects of why parents seek genetic counseling and to measure the effect of genetic counseling in parents of children with Down's syndrome, pre- and post-counseling measures of anxiety, hostility, depression, and self-concept were obtained from 43 parents. Pre-counseling responses were compared with those of normative controls, and pre- and post-counseling scores were compared for areas of significant change. Anxiety, hostility and depression levels were significantly higher in parents seeking counseling than in normative controls (both P less than 0.