Calcification of Soft Tissues in a Family, Case Report and Review of Pseudohypoparathyroidism
Journal Title: Journal of Rare Disorders: Diagnosis & Therapy - Year 2017, Vol 3, Issue 6
Abstract
Pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism are rare genetic disorders of calcium metabolism and resistance to the action of Parathormone. Although the genetic details of these conditions are not fully diagnosed, role of gene coding for stimulatory G protein locus was studied and imprinting in its inheritance was proved. We report three cases of a family member with calcification in soft tissues that show Pseudohypoparathyroidism in father and his sister and pseudo-pseudohypoparathyroidism in his son.
Authors and Affiliations
Zamanfar D, Navaeifar MR
Keywords
Related Articles
- EP ID EP305326
- DOI 10.21767/2380-7245.100169
- Views 71
- Downloads 0
Spontaneous Cutaneous Endometriosis of the Umbilicus: A Case Report
Cutaneous endometriosis represents an unusual ectopic growth of endometrial tissue outside the uterine cavity. We present a case of spontaneous (primary) cutaneous endometriosis of the umbilicus with review of the approp...
AbrikossoffâÂÂs Tumor (Granular Cell Tumor) of the Breast: A Case Report and Literature Review
Abrikossoff’s tumors can become a difficult diagnostic challenge for the physicians because of their clinical, mammographical, and sonographical aspects, mimicking a primary breast carcinoma. We report of a healthy 31-y...
Previously Undiagnosed Tuberous Sclerosis Complex in a Newborn: A Case Report
The early diagnosis of tuberous sclerosis complex (TSC), especially during the neonatal period is rare. If there is a family history, foetal cardiac masses diagnosed by foetal echocardiography, may suggest TSC. After the...
Epigenetics in Rare Diseases
The role of epigenetics in rare diseases is a key issue in molecular physiology and medicine because the understanding about the mechanisms that explain the influences of epigenetic regulation in rare diseases will provi...
A Pre-operative Realignment of Atlanto-occipital Dislocation
Atlanto-occipital dislocation (AOD) is the most common cervical spine injury in motor vehicular accident fatalities. It carries a high morbidity and mortality. Diagnosis of this injury is difficult and requires a high in...