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[Congenital insufficiency of the distal support function of the first ray of the foot].

Five patients with congenital deficiency of antero-medial support have been examined and treated at the Hôpital cantonal, Geneva. The main symptoms of these patients were global metatarsalgia and a dorsal bunion. All lesions were bilateral. Four of the patients had a localised dyslatia of the first ray, whereas one of them suffered from a nail patella syndrome. In two patients there was a hypoplastic first metatarsal, whereas in three others the first metatarsal was normal but too elevated under weight bearing. One patient responded well to conservative treatment. In three cases a lowering osteotomy of the first metatarsal bone with autologous bone graft was performed. The last patient was treated by arthrodesis between the first cuneiform and the first metatarsal for plantar-flexion the first ray. In one case it was necessary to transfer the long flexor of the great toe onto the first metatarsal according to Lapidus in combination with an arthrodesis of the great toe. One patient underwent an arthrodesis between the first cuneiform and the first metatarsal combined with an arthrodesis of the great toe. A Helal-type osteotomy on the second metatarsal was necessary in one case. The objective and subjective results were good or excellent. All treatments eliminated the painful symptoms, allowing all patients to resume a normal professional activity.

Foot Deformities, Congenital↗

Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.

Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% increase in AK-1 activity was found to be associated with duplication of the terminal band of the long arm of chromosome 9. Duplication of all other parts of chromosome 9 were associated with normal enzyme activity. These findings not only confirm the assignment of the AK-1 locus to chromosome 9 made previously in somatic cell hybrids, but suggest a more precise assignment to region 9q33 leads to qter. This places the ABO:Np-1:AK-1 linkage group at the distal end of the long arm of chromosome 9.

ABO Blood-Group System↗

[Nail-patella-elbow syndrome].

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.

Bone and Bones↗

Age trends in human chiasma frequencies and recombination fractions. II. Method for analyzing recombination fractions and applications to the ABO:nail-patella linkage.

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.

ABO Blood-Group System↗

Shoulder girdle dysplasia associated with nail patella syndrome. A case report and literature review.

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.

Acromion↗

Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

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.

Aconitate Hydratase↗