Marfanoid habitus with abnormal situs

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

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
Publication status	Published - 2004 Jun 1

Keywords

Marfan syndrome
Scoliosis
Situs ambiguus
Situs inversus

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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.",

keywords = "Marfan syndrome, Scoliosis, Situs ambiguus, Situs inversus",

author = "Kenjiro Kosaki and Bird, {Lynne M.} and Jun Maeda and Masataka Higuchi and Jones, {Marilyn C.} and Morio Matsumoto",

year = "2004",

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volume = "127",

pages = "310--312",

journal = "American Journal of Medical Genetics, Part A",

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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 - 2004/6/1

Y1 - 2004/6/1

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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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 3

ER -

Marfanoid habitus with abnormal situs

Abstract

Keywords

ASJC Scopus subject areas

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