Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. AJR Am J Roentgenol 1977;128:95-99.
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.
Short fourth and fifth metacarpals and metatarsals are seen in pseudo-pseudohypoparathyroidism
, gonadal dysgenesis (Turner's syndrome/chromosomal disorder 45XO), pseudohypoparathyroidism and familial brachydactylism, with hypogonadism being associated with the first two conditions (6).
The differential diagnosis of acrodysostosis are achondroplasia, hypothyroidism, pseudo-hypoparathyroidism, and pseudo-pseudohypoparathyroidism
. Endocrine abnormalities have not been reported in the acrodysostosis syndrome (8).
. Trans Assoc Am Physicians.
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism
: the growing spectrum of GNAS inactivating mutations.