110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs)

Gutowski, N. J.; Bosley, Thomas M.; Engle, Elizabeth C.

doi:10.1016/s0960-8966(03)00043-9

Cited by 151 publications

(96 citation statements)

References 42 publications

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“…We group these three syndromes with the various forms of Duane syndrome, congenital ptosis, congenital facial palsy, and Moebius syndrome as the congenital cranial dysinnervation disorders (CCDDs), a term we recently proposed for disorders we believe result from aberrant innervation of the ocular and facial musculature. 1 Individuals with CFEOM1 (OMIM 135700; http://www. ncbi.nlm.nih.gov/Omim/, provided in the public domain by the National Center for Biotechnology Information, Bethesda, MD) are born with bilateral ophthalmoplegia and ptosis, with the primary globe position of each eye infraducted (down-ward) and with the inability to raise either above the horizontal midline.…”

mentioning

confidence: 99%

Identification ofKIF21AMutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

Yamada

Chan

Andrews

et al. 2004

Invest. Ophthalmol. Vis. Sci.

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PURPOSE.Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3. METHODS. All pedigrees and sporadic individuals with CFEOM3 in the authors' database were identified, whether the pedigrees were linked or consistent with linkage to the FEOM1, FEOM2, and/or FEOM3 loci was determined, and the appropriate pedigrees and the sporadic individuals were screened for mutations in KIF21A and PHOX2A. RESULTS. Twelve CFEOM3 pedigrees and 10 CFEOM3 sporadic individuals were identified in the database. The structures of eight of the pedigrees permitted the generation of meaningful linkage data. KIF21A was screened in 17 probands, and mutations were identified in two CFEOM3 pedigrees. One pedigree harbored a novel mutation (2841G3 A, M947I) and one harbored the most common and recurrent of the CFEOM1 mutations identified previously (2860C3 T, R954W). None of CFEOM3 pedigrees or sporadic individuals harbored mutations in PHOX2A.CONCLUSIONS. The results demonstrate that KIF21A mutations are a rare cause of CFEOM3 and that KIF21A mutations can be nonpenetrant. Although KIF21A is the first gene to be associated with CFEOM3, the results imply that mutations in the unidentified FEOM3 gene are the more common cause of this phenotype. (Invest Ophthalmol Vis Sci.

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mentioning

confidence: 99%

Identification ofKIF21AMutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

Yamada

Chan

Andrews

et al. 2004

Invest. Ophthalmol. Vis. Sci.

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“…[1][2][3][4] Absent or deficient innervation results in extraocular muscle hypoplasia and fibrosis causing limitation and restriction of ocular rotations. Another problem is that neuronal misinnervation frequently develops and induces distinctive combinations of synkinetic eye movements.…”

Section: Discussionmentioning

confidence: 99%

“…4 In clinical practice, sometimes, it is difficult to achieve a correct diagnosis of these disorders, because a conserved partial innervation of the muscles persists or an anomalous paradoxical one exists, resulting in different combinations of involuntary eye movements. [4][5][6] In addition, it is also important to consider that a muscular palsy of one of this muscles leads to a hyperaction of the homolateral antagonist. 6 In this case, the affected muscle is the right superior oblique muscle that is innervated by the fourth cranial nerve and ends in a tendon that passes through a fibrous loop, named trochlea, located anteriorly on the medial aspect of the orbit.…”

Section: Discussionmentioning

confidence: 99%

Asymmetric Elevation of the Eyes

Nascimento

Pinto

2014

Clin Pediatr (Phila)

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A 26-month-old girl presented with a transient head-posturing to the left that the mother reported since early months. She had a normal growth and psychomotor development, and her parents reported a notion of good vision. The mother denied pain complaints, previous traumatic events, or systemic diseases. Her family history is unremarkable for any history of ophthalmologic problems.On ophthalmologic examination, head-posturing was evident, chin up and a face turn to the left side when asked to look at a symbol of the LEA Vision Chart Test (Figure 1). In the primary position, a minimal right hypotropia was present, and during ocular motricity examination, a limited elevation in adduction of the right eye was present (Figure 2) . An audible but painless superior nasal click was elicited, on ocular rotations up and nasalward. The children had a 10/20 visual acuity of both eyes but had a bad performance during the evaluation of stereoscopic vision, with Lang Test 2. Laboratory exams, which included screening for systemic lupus and juvenile rheumatoid arthritis, were normal. Orbit high-resolution magnetic resonance imaging did not detect any muscular atrophies, signs of inflammation, or orbital tumors. Final DiagnosisCongenital Brown syndrome.

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“…Later, Gutowski et al 39 proposed the term of CCDDs. They define these disorders include CFEOM, congenital ptosis, Duane's syndrome, Duane radial ray syndrome, horizontal gaze palsy with progressive scoliosis (HGPPS), and Mö bius syndrome.…”

Section: Congenital Cranial Dysinnervation Disorders (Ccdds)mentioning

confidence: 99%

“…Predominately facial weakness is likely to result from abnormal development of facial nerve and/or nucleus, The investigators suggested that in addition to DRS and CFEOM, it is also possible that familial HGPPS and at least some forms of Mö bius syndrome result from developmental dysinnervation. 40 Traboulsi 41 suggested that CCDDs might involve cranial sensory as well as motor nerves, Figure 5. Recently, Kolling et al 42 indicated congenital Brown's syndrome is caused by missing fourth cranial nerve in some cases, which put it in the category of congenital dysinnervation.…”

Section: Congenital Cranial Dysinnervation Disorders (Ccdds)mentioning

confidence: 99%

Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)

Assaf

2011

Eye

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110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs)

Cited by 151 publications

References 42 publications

Identification ofKIF21AMutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

Identification ofKIF21AMutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

Asymmetric Elevation of the Eyes

Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)

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