Brachymetacarpal Cücelik Sendromu (Pseudo-Pseudohypoparathyroidi)

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

Ahmet Sonel

https://izlik.org/JA57HM44EM

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)

https://izlik.org/JA57HM44EM

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

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