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The authors describe a typical, non familiar case of nail-patela-elbow syndrome, in which was found malformation of the nails and bones involving mainly the Knees and elbows, together with spondylolisthesis of the spine at the level L5-S1. There were no renal, ocular or psychic alterations.
A new method is presented for studying the relationship between human recombination fractions and parental age at the time of conception. Assuming the sex specific recombination fraction to be a linear function of age, a feasible computer algorithm is described whereby the likelihood of multigenerational families can be calculated. Using this method and the likelihood ratio test, it is found that for the ABO:nail-patella linkage age (P= .17)is more significant than sex (p= .23) in its effect on the recombination fraction. The age effect, if it is real, appears to be limited to males: the paternal recombination fraction decreases by .0062(+/- .0036) per year.
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Hereditary oncycho-osteodysplasia is a well-defined clinical entity consisting of four characteristics: (1) complete or partial absence of finger and thumb nails typically more severe on the radial side of the hand; (2) bony dysplasia about the knee consisting of patellar and lateral femoral condylar hypoplasia; (3) bony dysplasia about the elbow consisting of hypoplasia of the capitellum and radial head; and (4) iliac horns. The hereditary pattern is autosomal dominant with complete penetrance and variable expressivity. Other associated dysplasias have been reported, but there are only six articles reporting shoulder dysplasia and some of these are of questionable validity. This article reports the clinical and roentgenographic findings of a patient with an obvious deformity of the scapula consisting of a small acromion in both the anteroposterior (AP) and lateral planes. The acromion was deformed and slanted upwards at the lateral border. A slightly attenuated glenoid pointed laterally or slightly inferiorly, giving a humeral acromial interval of 2.5 cm.
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Somatic cell hybrids were derived from the fusion of (1) Chinese hamster cells deficient in hypoxanthine guanine phosphoribosyltransferase (HPRT) and human cells carrying an X/9 translocation and (2) Chinese hamster cells deficient in thymidine kinase (TK) and human cells carrying a 17/9 translocation. Several independent primary hybrid clones from these two series of cell hybrids were analyzed cytogenitically for human chromosome content and electrophoretically for the expression of human markers known to be on human chromosome 9. The results allow the assignment of the loci for the enzymes galactose-1-phosphate uridyltransferase (GALT), soluble aconitase (ACONs), and adenylate kinase-3 (AK3) to the short arm of chromosome 9 (p11 to pter) and the locus for the enzyme adenylate kinase-1 (AK1) to the distal end of the long arm of human chromosome 9 (hand q34). Earlier family studies have shown that the locus for AK1 is closely linked to the ABO blood group locus and to the locus of the nail-patella (Np) syndrome. Thus the regional localization of AK1 locus permits the localization of the AK1-Np-ABO linkage group.
A 30-year-old woman with hereditary onycho-osteodysplasia was examined. In addition to the classic tetrad of fingernail and toenail dysplasia, patellar aplasia, iliac horns, and radial head hypoplasia and dislocation, she also had scoliosis, proteinuria, and distinctive bilateral foot anomalies. The foot deformity consisted of a ball-and-socket ankle joint, valgus ankle, forefoot supination, and lateral subluxation at the tarsal-metatarsal joints. The literature showed that the radiographic findings of foot deformity in this dysplasia have never been reported in detail before. Evidence suggests that this distinctive pattern of deformity may be more common than previously appreciated.
This article describes a number of syndromes affecting the nail unit. When a patient presents with a complaint involving the nails, it is important to consider first the common nail disorders. However, one should evaluate the entire patient to discover associated signs or symptoms that would point toward an underlying syndrome. The dermatologist may have an opportunity to discover a syndrome that might have significant related morbidity or mortality, which may be prevented through early detection. By recognizing the presence of inherited syndromes, the dermatologist may facilitate genetic counseling. It should be noted that most of the syndromes described are of autosomal dominant inheritance, with variable expressivity, and that the individual manifestations can vary widely in severity, making recognition difficult.
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