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Pseudohypoparathyroidism
Published in Pallavi Iyer, Herbert Chen, Thyroid and Parathyroid Disorders in Children, 2020
Ambika P. Ashraf, Todd D. Nebesio
Patients with acrodysostosis due to mutations in PRKAR1A have universal resistance to PTH, and nearly all have TSH resistance. Only a small subset of individuals with acrodysostosis due to mutations in PDE4D have PTH and/or TSH resistance. There is a significant overlap between different but related disorders affecting the cAMP pathway.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Other syndromes with brachytelephalangy or absent terminal phalanx include Sorsby syndrome: brachydactyly type B associated with macular coloboma and renal anomalies. Robinow syndrome: brachydactyly with broad thumbs, the predominant features are typical facial features (‘fetal’ face), mesomelic limb shortening, abnormalities of the oral cavity, hypoplastic genitalia. Acrodysostosis: short hands and feet, hypoplastic nose, progressive short stature and mental retardation. Epiphyseal stippling in neonates, hydrocephalus and hearing loss have been described. Chondrodysplasia punctata X-linked recessive (CDPX1) (p. 272); Keutel syndrome: very rare, recessive disorder characterised by short terminal phalanges, diffuse and progressive calcification of nose, auricles, respiratory tract cartilages, dysmorphic facial features and peripheral pulmonary stenosis. Caused by mutations in the vitamin K-dependent matrix Gla protein (MGP). Zimmermann-Laband syndrome: rare disorder characterised by hypoplasia of the distal phalanges and dysplastic or absent nails associated with abnormalities of the cartilage of the nose and ears, gingival fibromatosis, scoliosis, hepatosplenomegaly, cardiomyopathy, hirsutism.
Pseudohypoparathyroidism presenting in children at a tertiary hospital in Johannesburg, South Africa
Published in Journal of Endocrinology, Metabolism and Diabetes of South Africa, 2020
N Madi, FY Moosa, KB Parbhoo, JM Pettifor, K Thandrayen
Pseudohypoparathyroidism (PHP) represents a group of disorders due to end organ resistance to the actions of parathyroid hormone (PTH) and abnormalities in the PTH signalling pathway. PHP is characterised by hypocalcaemia, hyperphosphatemia and high PTH levels, with or without a variable expression of physical features; the constellation of these physical features together are termed Albright hereditary osteodystrophy (AHO). Other disorders related to PTH resistance and PTH signalling pathway impairment are pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH) or osteoma cutis and acrodysostosis.1