Ectopic Calcification as Discernible Manifestation in Neonates with Pseudohypoparathyroidism Type 1a
نویسندگان
چکیده
The diagnosis of pseudohypoparathyroidism type 1a (PHP1a) is challenging, because both the osteodystrophy, such as brachydactyly and round face, and the symptomatic hypocalcemia usually develop beyond infancy. Although ectopic calcification may be an early sign of PHP1a, there are no systematic reviews regarding the time of its appearance. We here report on two PHP1a patients who presented with subcutaneous calcification in neonatal period.
منابع مشابه
Scleral and choroidal calcifications in a patient with pseudohypoparathyroidism.
This case report suggests that calcifications in the sclera and choroid may be a feature of pseudohypoparathyroidism and shows a calcium distribution more extensive and severe than that characteristically seen in other metabolic conditions associated with calcium deposits in the eye. Ocular ectopic calcification is a part of the more generalised ectopic soft tissue calcification seen with pseud...
متن کاملFirst description of pseudohypoparathyroidism with frontal lobe calcification and normal serum calcium at the initial manifestation in an otherwise healthy seven-year-old girl.
Pseudohypoparathyroidism (PHP) is characterized by resistance to the peripheral action of parathyroid hormone. We present a case of a seven-year-old girl who was admitted at the service of Instituto Materno Infantil de Pernambuco, IMIP, with motor episodes affecting the arms. Her calcium level was normal. Computed tomography showed calcifications in frontal lobes and basal ganglia. After six ye...
متن کاملCASE REPORTS Pseudohypoparathyroidism: case report
A patient with pseudohypoparathyroidism is presented. The phenotypic appearance, known as Albright heredity osteodystrophy includes: short stature, round face, brachydactylia, and ectopic calcifications in the soft tissues. Dental manifestations reported in the literature are enamel hypoplasia, hypodontia, malformed roots, enlarged pulp chambers, microdontia, and pulp calcifications. Additional...
متن کاملA Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis
Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs not only to parathyroid hormone (PTH), but typically also to other hormones which signal via G pr...
متن کاملبررسی 10 ساله موارد پسودوهیپوپاراتیروئیدیسم در مرکز تحقیقات غدد و متابولیسم
Pseudohypoparathyroidism (PHP) refers to a spectrum of disorders which is characterized by resistance of target organ to parathyroid hormone(PTH) followed by hypocalcemia, hyperphosphatemia and hypersecretion of PTH. Nowadays different types of PHP (1A, 1B, 1C, 2) can be distinguished the most common type among them is type 1A accompanied by Albright’s phenotype (round faces, shortening o...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
دوره 2009 شماره
صفحات -
تاریخ انتشار 2009