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Pseudo-Pseudo-Hypoparathyroidism and Basal-Cell Nevus Syndrome

  • Luc Goeminne (a1)

Summary

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.

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Copyright

Corresponding author

“Ter Weeden”, 9780 Zulte, Belgium

References

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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.
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.
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.
De Schrijver, F., Van Nevel, C. 1968. Pseudo-en Pseudo-pseudo-hypoparathyreoidie. Maandschr. Kindergeneeskd., 36: 169.
Forbes, A.P. 1962. Données récentes sur le pseudohypoparathyroïdisme. In: L'Insuffisance Parathyroïdienne et la Tétanie Chronique Constitutionnelle. L'Expansion, Paris.
Goeminne, L.: 1963. Albright's hereditary poly-osteo-chondro-dystrophy. (Pseudo-pseudo-hypoparathy-roidism). Proc. 2nd Int. Congr. Genetics, 1: 15, 46. The Netherlands.
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.
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.
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.
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.
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.
Schwarz, G. 1964. Pseudo-Hypoparathyreoidismus and Pseudo-Pseudo-Hypoparathyreoidismus. Springer-Verlag, Berlin.

Pseudo-Pseudo-Hypoparathyroidism and Basal-Cell Nevus Syndrome

  • Luc Goeminne (a1)

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