Posts: 3,675,937
Threads: 734,344
Joined:
Sep 2021
Reputation:
5
An adolescent with a history of mental retardation presents with short stature. He is noted to have short metacarpals and metatarsals . Blood tests reveal a low calcium , and an elevated phosphorus and alkaline phosphatase
a) Hypothyroidism
b) Pseudohypoparathyroidism
c) Hypoparathyroidism
d) Pseudo-pseudohypoparathyroidism
e) Hyperparathyroidism
Posts: 3,675,937
Threads: 734,344
Joined:
Sep 2021
Reputation:
5
The correct answer is B
Explanation
The differential diagnosis includes pseudohypoparathyroidism (Albright™s here-ditary osteodystrophy) which classically presents with short stature, short metacarpals and metatarsals and mental deficiency but they have low calcium and elevated phosphorus and alkaline phosphatase. Acromesomelic dysplasia also presents with extreme short stature, short hands and feet, and mild mental retardation, but our patient did not have mesomelia and was near normal in height. Lower thoracic kyphosis is an important clue to the condition, and is transmitted as an autosomal recessive pattern. Though patients with Robinow syndrome also have short hands and short stature and anteverted nostrils, their typical facies, hypoplastic genitalia and small penis differentiate them from acrodysostosis.
