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

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	310-312
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	127
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.30022
Publication status	Published - 2004 Jun

Keywords

Marfan syndrome
Scoliosis
Situs ambiguus
Situs inversus

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.30022

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title = "Marfanoid habitus with abnormal situs",

abstract = "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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year = "2004",

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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

Y1 - 2004/6

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.

KW - Marfan syndrome

KW - Scoliosis

KW - Situs ambiguus

KW - Situs inversus

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Marfanoid habitus with abnormal situs

Abstract

Keywords

ASJC Scopus subject areas

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