Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser–Winter syndrome

Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah‐Planchon, Julien; Drunat, Séverine; Verloes, Alain

doi:10.1016/j.ejmg.2013.10.005

Cited by 15 publications

(19 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mutation analysis was performed using Sanger sequencing in four laboratories (initial research in Seattle and Nijmegen, routine in Paris and Dresden). We gathered 42 patients, including the 16 patients briefly reported in our first paper, 7 four newly published patients with mutations 6,8,9 and twins with an ACTB mutation, who developed dystonia in late childhood and died in their early twenties, 10,11 as, retrospectively, the diagnosis in these patients was compatible with BWCFF (B26 and B27).…”

Section: Patients Recruitment and Inclusion Criteriamentioning

confidence: 99%

“…Winter noted: 'there does seem to be considerable overlap between the three groups [of CFF] suggesting a common embryological pathway, if not allelic mutations' . CFF3 was a heterogeneous group, encompassing several reports of [6][7][8][9] In this article, we discuss 42 patients with mutations in these genes with BWMS, FA or CFF. Having identified identical mutations in patients carrying a clinical diagnosis of BWMS, FA or CFF, we propose a unified designation: Baraitser-Winter cerebrofrontofacial syndrome (BWCFF).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Verloes¹,

Donato²,

et al. 2014

Self Cite

View full text Add to dashboard Cite

Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode b-and c-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris or retinal coloboma is present in many cases, as is sensorineural deafness. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Nearly all patients with ACTG1 mutations, and around 60% of those with ACTB mutations have some degree of pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Reduction of shoulder girdle muscle bulk and progressive joint stiffness is common. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Progressive, severe dystonia was seen in one family. Intellectual disability and epilepsy are variable in severity and largely correlate with CNS anomalies. One patient developed acute lymphocytic leukemia, and another a cutaneous lymphoma, indicating that actinopathies may be cancerpredisposing disorders. Considering the multifaceted role of actins in cell physiology, we hypothesize that some clinical manifestations may be partially mutation specific. Baraitser-Winter cerebrofrontofacial syndrome is our suggested designation for this clinical entity.

show abstract

Section: Patients Recruitment and Inclusion Criteriamentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Verloes¹,

Donato²,

et al. 2014

Self Cite

View full text Add to dashboard Cite

show abstract

“…Epicanthic folds can be present (1,9). Partial absence of the upper eyelashes has been reported (8,10).…”

Section: Craniofacial Characteristicsmentioning

confidence: 99%

“…A long philtrum, thin vermillion border and macrostomia are common (5). Micro-or retrognathia may be present (6,10). The palate is usually high arched.…”

Section: Craniofacial Characteristicsmentioning

confidence: 99%

See 1 more Smart Citation

Baraitser–Winter cerebrofrontofacial syndrome

et al. 2016

View full text Add to dashboard Cite

Baraitser–Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of this syndrome. Other features include moderate short stature, contractures, congenital cardiac disease and genitourinary malformations. BWCFF is caused by missense mutations in the cytoplasmic beta‐ and gamma‐actin genes ACTB and ACTG1. We provide an overview of the clinical characteristics (including some novel findings in four recently diagnosed patients), diagnosis, management, mutation spectrum and genetic counselling.

show abstract

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay

Pebrel‐Richard

Rouzade

Kemeny

et al. 2014

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser–Winter syndrome

Cited by 15 publications

References 17 publications

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Baraitser–Winter cerebrofrontofacial syndrome

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay

Contact Info

Product

Resources

About