We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.

Twelve affected members from 3 families with autosomal dominant exudative vitreouretinopathy were examined, and the following conclusions were drawn: (1) There is great variability in the phenotypic expression of the abnormal gene, such that many patients have very mild disease which can be detected with certainty only by fluorescein angiography. (2) Gene penetrance is close to 100%. (3) Progre...

The knottedl (knl) locus of maize is defined by a series of dominant mutations affecting leaf development. We recovered 10 additional mutant alleles in lines containing active Mutator transposable elements. Nine of these alleles contain Mu1 or Mu8 elements inserted within a 310-bp region of the knl third intron. All five Mu8 insertions are in the same orientation whereas both orientations of Mu...

Case 1. The grandfather, II.3, born in 1889, suffers from lymphatic leukaemia and diabetes. As can be seen in Fig. 2a, the hands show complete anonychia of the thumb, the forefinger, and the middle finger, with nail-bed vestiges present as small ridges on the outer finger edges. The fourth and fifth fingers show the absence of nails in the central part, and two small atrophied nail lamellae on ...

We present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature. No successful treatment has been identified, and the pathogenetic mechanism has not been established. Most affected individuals a...

Two girls and their mother with multicore myopathy are described. The cores consisted of Z band disorganisation and decreased or absent enzyme activity. Only one case has clinical signs of myopathy. Muscle enzyme activity was elevated in the two children. The mode of inheritance was autosomal dominant.