Congenital cranial dysinnervation disorders

T. M. Bosley; D. T. Oystreck; K. K. Abu-Amero

doi:10.1016/B978-0-12-374203-2.00278-5

Congenital cranial dysinnervation disorders

T. M. Bosley, D. T. Oystreck, K. K. Abu-Amero

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Certain individuals are born with nonprogressive ocular motility disturbances with variable appearance, but sharing the characteristic that some, or all, of the extraocular muscles are small, tight, and fibrotic, often causing restriction of motility on forced ductions and retraction of the globe on eye movement. These disorders were initially called congenital fibrosis of the extraocular muscles, but, in 2002, the term congenital cranial dysinnervation disorders (CCDDs) was suggested because of the evidence that these problems were most commonly neurogenic in origin rather than myopathic. This article reviews the CCDD disorders with currently proven genetic causes.

Original language	English (US)
Title of host publication	Encyclopedia of the Eye
Publisher	Elsevier
Pages	346-355
Number of pages	10
ISBN (Electronic)	9780123742032
ISBN (Print)	9780123741981
DOIs	https://doi.org/10.1016/B978-0-12-374203-2.00278-5
State	Published - Jan 1 2010
Externally published	Yes

Keywords

Brain development
Brainstem
Congenital cranial dysinnervation disorders
Congenital fibrosis of the extraocular muscles
Duane retraction syndrome
Extraocular muscles
HOXA1 spectrum disorders
Horizontal gaze palsy and progressive scoliosis
Moebius syndrome
Orbit

ASJC Scopus subject areas

General Medicine

Access to Document

10.1016/B978-0-12-374203-2.00278-5

Cite this

@inbook{f0ccd3b5bbd040a58c867b61103d999f,

title = "Congenital cranial dysinnervation disorders",

abstract = "Certain individuals are born with nonprogressive ocular motility disturbances with variable appearance, but sharing the characteristic that some, or all, of the extraocular muscles are small, tight, and fibrotic, often causing restriction of motility on forced ductions and retraction of the globe on eye movement. These disorders were initially called congenital fibrosis of the extraocular muscles, but, in 2002, the term congenital cranial dysinnervation disorders (CCDDs) was suggested because of the evidence that these problems were most commonly neurogenic in origin rather than myopathic. This article reviews the CCDD disorders with currently proven genetic causes.",

keywords = "Brain development, Brainstem, Congenital cranial dysinnervation disorders, Congenital fibrosis of the extraocular muscles, Duane retraction syndrome, Extraocular muscles, HOXA1 spectrum disorders, Horizontal gaze palsy and progressive scoliosis, Moebius syndrome, Orbit",

author = "Bosley, {T. M.} and Oystreck, {D. T.} and Abu-Amero, {K. K.}",

year = "2010",

month = jan,

day = "1",

doi = "10.1016/B978-0-12-374203-2.00278-5",

language = "English (US)",

isbn = "9780123741981",

pages = "346--355",

booktitle = "Encyclopedia of the Eye",

publisher = "Elsevier",

}

TY - CHAP

T1 - Congenital cranial dysinnervation disorders

AU - Bosley, T. M.

AU - Oystreck, D. T.

AU - Abu-Amero, K. K.

PY - 2010/1/1

Y1 - 2010/1/1

N2 - Certain individuals are born with nonprogressive ocular motility disturbances with variable appearance, but sharing the characteristic that some, or all, of the extraocular muscles are small, tight, and fibrotic, often causing restriction of motility on forced ductions and retraction of the globe on eye movement. These disorders were initially called congenital fibrosis of the extraocular muscles, but, in 2002, the term congenital cranial dysinnervation disorders (CCDDs) was suggested because of the evidence that these problems were most commonly neurogenic in origin rather than myopathic. This article reviews the CCDD disorders with currently proven genetic causes.

AB - Certain individuals are born with nonprogressive ocular motility disturbances with variable appearance, but sharing the characteristic that some, or all, of the extraocular muscles are small, tight, and fibrotic, often causing restriction of motility on forced ductions and retraction of the globe on eye movement. These disorders were initially called congenital fibrosis of the extraocular muscles, but, in 2002, the term congenital cranial dysinnervation disorders (CCDDs) was suggested because of the evidence that these problems were most commonly neurogenic in origin rather than myopathic. This article reviews the CCDD disorders with currently proven genetic causes.

KW - Brain development

KW - Brainstem

KW - Congenital cranial dysinnervation disorders

KW - Congenital fibrosis of the extraocular muscles

KW - Duane retraction syndrome

KW - Extraocular muscles

KW - HOXA1 spectrum disorders

KW - Horizontal gaze palsy and progressive scoliosis

KW - Moebius syndrome

KW - Orbit

UR - http://www.scopus.com/inward/record.url?scp=85079788867&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85079788867&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-374203-2.00278-5

DO - 10.1016/B978-0-12-374203-2.00278-5

M3 - Chapter

AN - SCOPUS:85079788867

SN - 9780123741981

SP - 346

EP - 355

BT - Encyclopedia of the Eye

PB - Elsevier

ER -

Congenital cranial dysinnervation disorders

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this