Marfanoid habitus with abnormal situs

Kenjiro Kosaki; Lynne M. Bird; Jun Maeda; Masataka Higuchi; Marilyn C. Jones; Morio Matsumoto

doi:10.1002/ajmg.a.30022

Marfanoid habitus with abnormal situs

Kenjiro Kosaki, Lynne M. Bird, Jun Maeda, Masataka Higuchi, Marilyn C. Jones, Morio Matsumoto

研究成果: Article › 査読

抄録

Marfanoid habitus suggests abnormal microfibril formation, whereas a situs ambiguus or situs inversus phenotype points to detective left-right axis determination. The concurrence of these two abnormalities has been reported only once in the literature. We report a similar phenotype in two unrelated patients. Documentation of this specific combination of Marfanoid habitus and abnormal situs gives further credence to the notion that the combination may represent a distinct syndrome.

本文言語	English
ページ（範囲）	310-312
ページ数	3
ジャーナル	American Journal of Medical Genetics
巻	127
号	3
DOI	https://doi.org/10.1002/ajmg.a.30022
出版ステータス	Published - 2004 6月

ASJC Scopus subject areas

遺伝学
遺伝学（臨床）

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10.1002/ajmg.a.30022

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AU - Kosaki, Kenjiro

AU - Bird, Lynne M.

AU - Maeda, Jun

AU - Higuchi, Masataka

AU - Jones, Marilyn C.

AU - Matsumoto, Morio

PY - 2004/6

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N2 - Marfanoid habitus suggests abnormal microfibril formation, whereas a situs ambiguus or situs inversus phenotype points to detective left-right axis determination. The concurrence of these two abnormalities has been reported only once in the literature. We report a similar phenotype in two unrelated patients. Documentation of this specific combination of Marfanoid habitus and abnormal situs gives further credence to the notion that the combination may represent a distinct syndrome.

AB - Marfanoid habitus suggests abnormal microfibril formation, whereas a situs ambiguus or situs inversus phenotype points to detective left-right axis determination. The concurrence of these two abnormalities has been reported only once in the literature. We report a similar phenotype in two unrelated patients. Documentation of this specific combination of Marfanoid habitus and abnormal situs gives further credence to the notion that the combination may represent a distinct syndrome.

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KW - Scoliosis

KW - Situs ambiguus

KW - Situs inversus

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JF - American Journal of Medical Genetics, Part A

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Marfanoid habitus with abnormal situs

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