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Pseudo-Pseudo-Hypoparathyroidism and Basal-Cell Nevus Syndrome

Published online by Cambridge University Press:  01 August 2014

Luc Goeminne
Luc Goeminne*
Affiliation:
Medical Clinic, Deinze, Belgium
*
“Ter Weeden”, 9780 Zulte, Belgium

Summary

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A case is described of pseudo-pseudo-hypoparathyroidism, with the following symptoms: round face, large forehead, relative backwardness, short stature, relative obesity, congenital muscular torticollis, cervical fused vertebrae, spina bifida occulta cervicalis, bifid rib, bilateral brachymetacarpy IV. Some of these also occur in the basal-cell nevus syndrome. The patient does not however show a basal-cell carcinoma, nor mandibula cysts.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 21 , Issue 1-2 , April 1972 , pp. 94 - 98
Copyright
Copyright © The International Society for Twin Studies 1972

References

REFERENCES

Albright, F., Forbes, A.P., Henneman, P.H. 1952. Pseudo-pseudo-hypoparathyroidism. Trans. Assoc. Am. Physicians, 65: 337.Google Scholar
Berlin, N.I., Van Scott, J., Clendenning, W.E., Archard, H.O., Block, J.B., Witkop, C.J., Haynes, H.A. 1966. Basal-cell nevus syndrome. Ann. Intern. Med., 64: 403.CrossRefGoogle ScholarPubMed
Binkley, G.W., Johnson, H.H. 1951. Epithelioma adenoides cysticum: basal-cell nevi, agenesis of the corpus callosum and dental cysts. A clinical and autopsy study. Arch. Dermatol., 63: 73.Google ScholarPubMed
Block, J.B., Clendenning, W.E. 1963. Parathyroid hormone hyporesponsiveness in patients with basal-cell nevi and bone defects. N. Engl. J. Med., 268: 1157.Google Scholar
De Schrijver, F., Van Nevel, C. 1968. Pseudo-en Pseudo-pseudo-hypoparathyreoidie. Maandschr. Kindergeneeskd., 36: 169.Google Scholar
Forbes, A.P. 1962. Données récentes sur le pseudohypoparathyroïdisme. In: L'Insuffisance Parathyroïdienne et la Tétanie Chronique Constitutionnelle. L'Expansion, Paris.Google Scholar
Goeminne, L.: 1963. Albright's hereditary poly-osteo-chondro-dystrophy. (Pseudo-pseudo-hypoparathy-roidism). Proc. 2nd Int. Congr. Genetics, 1: 15, 46. The Netherlands.Google Scholar
Goeminne, L. 1965. Albright's hereditary poly-osteo-chondro-dystrophy (Pseudo-pseudo-hypoparathyroidism, with diabetes, hypertension, arteritis, and polyarthrosis). Acta Genet. Med. Gemellol., 14: 226.Google Scholar
Gorlin, R.J., Vickers, R.A., Kelln, E., Williamson, J.J. 1965. The multiple basal-cell nevi syndrome: an analysis of a syndrome consisting of multiple ne-void basal-cell carcinoma, jaw cysts, skeletal anomalies, medulloblastoma and hyporesponsiveness to parathormone. Cancer, 18: 89.Google Scholar
Klotz, H.P., Tomkiewiez, S., Benhamou, R. 1962. A propos de 14 cas de PPHP. In: L'Insuffisance Parathyroïdienne et la Tétanie Chronique Constitutionnelle. L'Expansion, Paris.Google Scholar
Mann, J.B., Alterman, S., Hills, A.G. 1962. Albright's hereditary osteo-dystrophy comprising pseudo-hypoparathyroidism and pseudo-pseudo-pseudo-hypoparathyroidism with a report of two cases representing the complete syndrome occuring in successive generations. Ann. Intern. Med., 56: 315.Google Scholar
Nagant De Deuxchaisnes, C., Isaac, C., Jacquet, A., Hoet, J. 1960. Etude clinique et physio-pathogénique de la “Dystrophie d'Albright” et de syndromes voisins. A propos de 3 nouveaux cas, dont deux familiaux. Rev. Fr. Etud. Clin. Biol., 5: 153.Google Scholar
Schwarz, G. 1964. Pseudo-Hypoparathyreoidismus and Pseudo-Pseudo-Hypoparathyreoidismus. Springer-Verlag, Berlin.Google Scholar