Two cases of pseudohypoparathyroidism in a family with type E brachydactylia.
The authors described two sisters with pseudohypoparathyroidism, who had shortening of the metacarpal and metatarsal bones, irregular shortening of the phalanges, resulting in brachydactylia; short stature, moon-like face, in association with manifestation of tetany and metabolic anomalies (hypocalcemia and hyperphosphatemia in one of the patients). Investigation into the genealogy of the patients ascertained their father and grandmother to be of the same constitutional type: small in stature, moon-like face, shortened metacarpal bones (less marked); in the absence of any manifestations of tetany and metabolic anomalies. Evidently, in genealogies with type E brachydactylia of pure form one may expect the occurrence of disorders of the type of pseudohypoparathyroidism. As regards differential diagnosis, consideration should be given in hypoparathyroidism, pseudo-pseudohypoparathyroidism, and other syndromes with brachydactylia.
Cherninkov
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Z
Cherninkova
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S
D002648:Child; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D011547:Pseudohypoparathyroidism / Q000235:genetics*