1993
DOI: 10.1002/ajmg.1320460303
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Brachydactyly type A‐4 (Temtamy type) with short stature in a Japanese girl and her mother

Abstract: We report on a Japanese girl and her mother with brachydactyly. Their 2nd and 5th middle phalanges were short and the latter was fused with the distal phalanx in one of the patients. Length and shape of proximal and distal phalanges as well as metacarpals seemed normal. These findings are consistent with brachydactyly type 4-A, which is a rare subtype and has not been adequately documented. Short stature was reported only in some cases of brachydactyly type A-1, A-6, C, and E, but not in the other subtypes. Ou… Show more

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Cited by 5 publications
(6 citation statements)
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“…Ohzeki et al . [ 25 ] reported this form of brachydactyly in a Japanese mother and daughter who were also short of stature.…”
Section: Types Of Isolated Brachydactylymentioning
confidence: 99%
“…Ohzeki et al . [ 25 ] reported this form of brachydactyly in a Japanese mother and daughter who were also short of stature.…”
Section: Types Of Isolated Brachydactylymentioning
confidence: 99%
“…The syndrome of brachydactyly A4 is exceedingly rare, and we were able to find only 4 such reports [Jeanselme and Joannon, 1923;Temtamy and McKusick, 1978;Ohzeki et al, 1993;Reichenbach et al, 1993]. In addition to brachydactyly, one patient had short stature and microcephaly (Ohzeki, personal communication), the mother reported by Reichenbach et al [1993] had atypical Madelung deformity and metatarsal exostosis, and her son had cervical ribs and persistent spheno-frontal and spheno-occipital synchondrosis.…”
Section: Introductionmentioning
confidence: 71%
“…This figure is close to that obtained for the entire group when ascertainment was corrected by excluding the propositus (16.6%). If we include the partially expressed cases of Ohzeki et al [1993], Reichenbach et al [1993], Piussan et al [1983], and Barber et al [1990], the incidence of GI atresias appears considerably lower.…”
Section: Discussionmentioning
confidence: 96%
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“…引起BDA2 的原因 [15] , 此外, 20p12.3 上BMP2 基因调 控 区 域 的 杂 合 重 复 也 造 成 BDA2 [16] 。 Kjaer等 [13] 将 先天性仰趾外翻足和畸形足 [1] 。Ohzeki等 [18] 发现该 表型患者还可表现为身材矮小。 2.1.5 A5 型(Brachydactyly type A5 with nail dysplasia, BDA5; MIM 112900)…”
Section: 分子遗传学unclassified