Literature DB >> 16514227

Albright's hereditary osteodystrophy.

Seema Kapoor1, Siddhartha Gogia, Ritu Paul, Sharmila Banerjee.   

Abstract

Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte membrane coupled with Gs alpha activity. We report here the variable inheritance of hormone resistance in the presence of characteristic phenotype and reduced Gs alpha activity in the same family.

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Year:  2006        PMID: 16514227     DOI: 10.1007/BF02820210

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  6 in total

1.  Albright's herediatary osteodystrophy (without hypocalcemia). (Brachymetacarpal dwarfism without tetany, or pseudo-pseudohypoparathyroidism). Report of a case and review of the literature.

Authors:  A C PAPAIOANNOU; B E MATSAS
Journal:  Pediatrics       Date:  1963-04       Impact factor: 7.124

2.  Osteoma cutis as a presenting sign of pseudohypoparathyroidism.

Authors:  J S Prendiville; A W Lucky; S B Mallory; Z Mughal; F Mimouni; C B Langman
Journal:  Pediatr Dermatol       Date:  1992-03       Impact factor: 1.588

3.  Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia.

Authors:  M A Levine; T S Jap; W Hung
Journal:  J Pediatr       Date:  1985-12       Impact factor: 4.406

4.  Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein.

Authors:  M A Levine; R W Downs; A M Moses; N A Breslau; S J Marx; R D Lasker; R E Rizzoli; G D Aurbach; A M Spiegel
Journal:  Am J Med       Date:  1983-04       Impact factor: 4.965

5.  Oral manifestations of Albright hereditary osteodystrophy: a case report.

Authors:  Mônica Fernandes Gomes; Ana Maria Albernaz Camargo; Tatiane Alves Sampaio; Maria Aparecida O C Graziozi; Mônica Costa Armond
Journal:  Rev Hosp Clin Fac Med Sao Paulo       Date:  2002 Jul-Aug

6.  Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone.

Authors:  L R Chase; G L Melson; G D Aurbach
Journal:  J Clin Invest       Date:  1969-10       Impact factor: 14.808

  6 in total
  5 in total

1.  Albright hereditary osteodystrophy: a case report.

Authors:  Deepa Hugar; Sangameshwar Sajjanshetty; Santosh Hugar; Megha Kadani
Journal:  J Clin Diagn Res       Date:  2014-10-20

2.  Osteoma cutis as the presenting feature of albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism.

Authors:  Ki-Heon Jeong; Bark-Lynn Lew; Woo-Young Sim
Journal:  Ann Dermatol       Date:  2009-05-31       Impact factor: 1.444

3.  Raised intracranial pressure as a result of pansynostosis in a child with Albright's hereditary osteodystrophy.

Authors:  Sepehr Mamoei; Søren Cortnum
Journal:  Childs Nerv Syst       Date:  2016-12-29       Impact factor: 1.475

4.  Short fourth and fifth metacarpals in a case of idiopathic primary hypoparathyroidism.

Authors:  Neda Valizadeh; Alireza Mehdizadeh; Surena Nazarbaghi
Journal:  Indian J Endocrinol Metab       Date:  2013-09

5.  Hypocalcemic Recurrent Generalized Seizures with Bilateral Basal Ganglia and Frontal Calcification as the Initial Manifestation of Albright's Hereditary Osteodystrophy in a Child: A Pictorial and Video-graphic Representations.

Authors:  Akhilesh Kumar Nunavath; Sandhya Manorenj; Srikant Jawalker; Bushra Naaz
Journal:  J Pediatr Neurosci       Date:  2019-12-03
  5 in total

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