scholarly journals Congenital Cranial Dysinnervation Disorder

2019 ◽  
Vol 39 (3) ◽  
pp. 348-351
Author(s):  
Michael S. Salman ◽  
Conor Mulholland ◽  
Jens Wrogemann ◽  
Samantha E. Marin
Keyword(s):  
Congenital Cranial Dysinnervation Disorder

scholarly journals Large-angle congenital exotropia due to ‘absent’ medial recti: a case of congenital cranial dysinnervation disorder

Eye ◽  
2008 ◽  
Vol 23 (6) ◽  
pp. 1489-1490 ◽  
Author(s):  
A C Houtman ◽  
G Hocking ◽  
C Lloyd ◽  
S Biswas
Keyword(s):  
Large Angle ◽  
Congenital Cranial Dysinnervation Disorder

scholarly journals Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Mihir Kothari ◽  
Florence Manurung ◽  
Bhavesh Mithiya
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Simultaneous Occurrence ◽  
Autosomal Dominant Disorder ◽  
First Case ◽  
Retraction Syndrome ◽  
Congenital Cranial Dysinnervation Disorder ◽  
Duane Retraction Syndrome

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

scholarly journals A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]

2013 ◽  
Vol 9 (1) ◽  
pp. 7 ◽  
Author(s):  
Julia C Schröder ◽  
Anne K Läßig ◽  
Danuta Galetzka ◽  
Angelika Peters ◽  
John C Castle ◽  
...  
Keyword(s):  
Moebius Syndrome ◽  
Congenital Cranial Dysinnervation Disorder

scholarly journals Recessive Mutations in COL25A1 Are a Cause of Congenital Cranial Dysinnervation Disorder

2015 ◽  
Vol 96 (1) ◽  
pp. 147-152 ◽  
Author(s):  
Jameela M.A. Shinwari ◽  
Arif Khan ◽  
Salma Awad ◽  
Zakia Shinwari ◽  
Ayodele Alaiya ◽  
...  
Keyword(s):  
Recessive Mutations ◽  
Congenital Cranial Dysinnervation Disorder
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