Pseudopseudohypoparathyroidism

Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

Round face

The facial appearance is more circular than usual as viewed from the front.


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PMID (PMCID)
7573148
 MIXED_SAMPLE Child
Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.
Phelan MC, Rogers RC, Clarkson KB, Bowyer FP, Levine MA, Estabrooks LL, Severson MC, Dobyns WB.
Am J Med Genet. 1995;58(1):1-7.
Albright hereditary osteodystrophy (AHO) is a condition with characteristic physical findings (short stature, obesity, round face, brachydactyly) but variable biochemical changes (pseudohypoparathyroidism, pseudopseudohypoparathyroidism).
1678415
 FEMALE Middle Aged
Intracranial calcification and brachydactyly mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and prolactinoma-like lesion.
Tsai KS, Wu DJ, Lai SM, Gong ST.
J Formos Med Assoc. 1991;90(2):189-94.
Thus in addition to short stature, brachydactyly, a round face, and obesity, which are related to hypothyroidism, she also presented features uniquely mimicking the Albright's hereditary osteodystrophy seen in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.