Graudal N, Milman N, Nielsen L S, Niebuhr E, Bonde J
Clin Genet. 1986 Dec;30(6):449-55. doi: 10.1111/j.1399-0004.1986.tb01909.x.
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 (E1-E4) 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.
首次描述了同一家庭中不同个体出现假性甲状旁腺功能减退/假性假性甲状旁腺功能减退（PH/PPH）和D型短指畸形（DB）的情况。提出了PH/PPH、E型短指畸形（EB）、肢端发育异常（AD）和DB是同一性状或等位基因性状的不同表现形式的理论。建议对这类家庭中的新生儿进行仔细检查，以排除低钙血症性PH。建议根据症状程度将EB分为4组（E1-E4）。这个家庭的先证者是一个独特的病例。除了血钙正常的PH外，她还患有血色素沉着症，这是另一种罕见的遗传性疾病，并且她有一条异常的20号染色体，此前未曾描述过。这两个发现被认为是巧合。
