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Coexistent pseudohypoparathyroidism and D brachydactyly in a family
Author(s) -
Graudal Niels,
Milman Nils,
Nielsen Lillian Staub,
Niebuhr Erik,
Bonde Jan
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb01909.x
Subject(s) - brachydactyly , proband , pseudohypoparathyroidism , medicine , chromosome 20 , genetics , endocrinology , pediatrics , short stature , chromosome , biology , parathyroid hormone , mutation , calcium , gene
The occurrence of pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PH/PPH) and D brachydactyly (DB) in different persons in the same family is described for the first time. The theory that PH/PPH, E brachydactyly (EB), acrodysostosis (AD) and DB are variable expressions of the same trait or allelic traits is proposed. It is advised that newborn babies in such families are investigated carefully in order to exclude hypocalcemic PH. It is suggested that EB is subdivided into 4 groups (Ei‐E 4 ) according to the degree of symptoms. The proband of this family was a unique case. In addition to normocalcemic PH she also suffered from hemochromatosis, another rare hereditary disease and she had an abnormal chromosome 20, not earlier described. Both findings were supposed to be coincidental.