Brachymetacarpal Cücelik Sendromu (Pseudo-Pseudohypoparathyroidi)

Year 1964, Volume: 17 Issue: 1, 153 - 160, 31.03.1964

Ahmet Sonel

Abstract

1 — 28 yaşında, erkek bir Brachymetacarpal cücelik (Pseudo-
Pseudohypoparathyroidism) sendromu takdim edilmiş ve bu konu
tartışılmıştır.
2 — Vak'ada endokrin bir bozukluk olmadığı gibi, herhangi bir
metabolik bozukluk da bulunamamıştır. Bilhassa el ve ayak kısalıgının
ön plânda olduğu bir cücelik tesbit edilmiştir.
3 — Sendromun vak'amızda, hipertansiyonla birlikte bulunuşu
ve familiyer olmasının ilgi çekici olduğu düşünülmüştür.

Keywords

Brachymetacarpal cücelik , pseudo-pseudohypoparathyroidi , brakidaktili , hipertansiyon , genetik sendrom

Brachy Metacarpal Dwarfism Syndrome (Pseudo-Pseudo Hypoparathyroid)

Abstract

1 — A 28-year-old male with brachymetacarpal dwarfism (pseudohypoparathyroidism) syndrome was presented and discussed.

2 — No endocrine disorder was found in the case, nor was any metabolic disorder. Dwarfism, particularly shortened hands and feet, was identified.

3 — The coexistence of the syndrome with hypertension and its familial nature in our case were considered interesting.

Keywords

Brachymetacarpal dwarfism , pseudo-pseudohypoparathyroidism , brachydactyly , hypertension , genetic syndrome

References

• 1. Williams, R. H.: Textbook of Endocrinology 3rd. Ed., W. B. Saunders Co. Philadelphia and London, 1962.
• 2. Danowski, T. S.: Clinical Endocrinology. Vol. III, The Williams and Wilkins Co. Baltimore, 1962.
• 3. Albright, F., Forbes, A. P., Henneman, P. H.: Pseudo-pseudohypoparathyroidism. Tr. A. Am. Physicians, 65: 337, 1952.
• 4. McNeely, W. F., Raisz, L. G., Lemay, M.: Dyschondroplasia with soft tissue calcification and ossification, and normal parathyroid function (Pseudo-pseudohypoparathyroidism). Am. J. Med., 21: 649, 1956.
• 5. Wallach, S., Engirt, E., Brown, H.: The Syndrome of pseudo-pseudohypoparathyroidism. Arch. Int. Med., 98: 517, 1956.
• 6. Smulyan, H., Raisz, L. G.: Pseudo-pseudohypoparathyroidism with unusual features. J. Clin. Endocrinology, 19: 478, 1959.
• 7. Van Der Werff Ten Bosch, J. J.: The Syndrome of Brachymetacarpal dwarfism (Pseudo-pseudohypoparathyroidism): with and without gonadal dysgenesis. Lancet 1: 69, 1959.
• 8. Barr, S. E., Taylor, E. F., Rabkin, B.: Pseudo-pseudohypoparathyroidism. Arch. Int. Med., 105: 492, 1960.
• 9. Tanz, S. S.: Pseudo-pseudohypoparathyroidism. Am. J. Med. Sc. 239: 458, 1960.
• 10. Todd, J. N. III, Hill, S. R., Nickerson, I. F., Tringley, J. D.: Hereditary multiple exostoses, Pseudo-pseudohypoparathyroidism and other genetic defects of bone, calcium and phosphorus metabolism. Am. J. Med., 30: 289, 1961.
• 11. Ferguson, A. B. Jr.: Orthopedic Surgery in infancy and Childhood. The Williams and Wilkins Co. Baltimore, 1957.
• 12. Haws, D. V., McKusick, V. A.: Farabee's Brachydactylous Kindred Revisited. Bulletin of the Johns Hopkins Hospital, 113(1): 20, 1963.
• 13. Görpe, A., Erdem, S., Iber, G.: Pseudo-pseudohypoparathyroidism. Turk Tip Cemiyeti Mecmuası, Yıl 27, No: 6: 297, 1961.
• 14. Todd, I. N., Nickerson, J. F., Hill, S. R.: Pseudo-Pseudohypoparathyroidism and Hereditary multiple exostoses. Am. J. Med. 27: 327, 1959.