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

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)

Access to Document

Fingerprint Dive into the research topics of 'Marfanoid habitus with abnormal situs'. Together they form a unique fingerprint.

Cite this

Kosaki, K., Bird, L. M., Maeda, J., Higuchi, M., Jones, M. C., & Matsumoto, M. (2004). Marfanoid habitus with abnormal situs. American Journal of Medical Genetics, 127(3), 310-312.

@article{8fda1693f349444996245afa2e8649fe,

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",

month = jun,

day = "1",

language = "English",

volume = "127",

pages = "310--312",

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

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "3",

}

TY - JOUR

T1 - Marfanoid habitus with abnormal situs

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

UR - http://www.scopus.com/inward/record.url?scp=2542470891&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=2542470891&partnerID=8YFLogxK

M3 - Article

C2 - 15150786

AN - SCOPUS:2542470891

VL - 127

SP - 310

EP - 312

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 3

ER -