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O que é Baraitser-Winter syndrome?
Baraitser-Winter é uma doença genética caracterizada por uma série de características faciais exclusivas e outras doenças cardíacas. Foi identificado pela primeira vez em 1988.
É uma anomalia congênita múltipla síndromes, o que significa que está presente no nascimento e afeta várias partes do corpo.
O síndromes afeta o desenvolvimento da massa cinzenta do cérebro, e a deficiência intelectual é uma das características do síndromes.
Esta síndromes também é conhecido como:
Iris coloboma com ptose hipertelorismo e retardo mental; Ramer síndromes
Quais mudanças genéticas causam Baraitser-Winter syndrome?
Danos aos genes ACTB e ACTG1 nos cromossomos 7 e 17, respectivamente, são responsáveis pela doença.
A maioria dos casos são mutações de novo e a doença não é hereditária.
Em alguns casos, uma síndromes genética pode ser o resultado de uma mutação de novo e o primeiro caso em uma família. Neste caso, trata-se de uma nova mutação gênica que ocorre durante o processo reprodutivo.
Quais são os principais sintomas de Baraitser-Winter syndrome?
Deficiência intelectual, atraso no desenvolvimento e fala limitada a zero são alguns dos sintomas mais graves da síndromes.
O desenvolvimento anormal da massa cinzenta do cérebro também é uma condição importante associada a essa síndrome específica, e esse desenvolvimento anormal se correlaciona com a gravidade da deficiência intelectual.
As características faciais únicas da síndrome incluem uma cabeça pequena, olhos bem espaçados, pálpebras caídas, testa estreita, uma crista no meio da testa, uma boca larga, sobrancelhas arqueadas, um nariz curto, uma ponta plana do nariz, uma longa filtro e fenda labial ou palatina.
Outras possíveis condições de saúde associadas à síndrome incluem perda auditiva, epilepsia, defeitos cardíacos e hérnias.
Como alguém faz o teste de Baraitser-Winter syndrome?
O teste inicial para Baraitser-Winter syndrome síndromes pode começar com a triagem de análise facial, por meio do FDNA Telehealth plataforma telegenética, que pode identificar os principais marcadores do síndromes e delineia a necessidade de mais testes. Seguirá uma consulta com um conselheiro genético e, em seguida, um geneticista.
Com base nesta consulta clínica com um geneticista, as diferentes opções para testes genéticos serão compartilhadas e o consentimento será solicitado para testes adicionais.
Informações médicas sobre Baraitser-Winter syndrome
Fryns and Aftimos (2000) reported two unrelated males with a similar pattern of malformations. Both were males and presented at birth with facial oedema. There was significant weight loss in the neonatal period. In the postnatal period the skin was loose and hyperextensible, most evident in the arms. There was neck webbing, ptosis of the eyelids, and a low posterior hairline with a broad thorax and widely spaced nipples which at first suggested a diagnosis of Noonan syndrome. At the age of 3-5 years seizures became apparent which were difficult to control. CT and MRI scans showed pachygyria, most pronounced in the frontal lobes. Before the seizures developed, psychomotor development was mild to moderately delayed, but after the onset of seizures there was deterioration. Both males were profoundly mentally retarded. There was an unusual body habitus, with some truncal obesity, tip-toe walking, and limited extension of the knees and elbows. Similar cases were reported by Guion-Almedia and Richieri-Costa (1992, 2001), Masuno et al., (2000) and Der Kaloustian et al., (2001). See also the comments by Winter (2001) about this group of syndromes. Additional features include craniosynostosis, cerebral atrophy, agenesis of the corpus callosum, short stature, and degrees of preaxial polydactyly. Please see ' Baraitser-Winter syndrome' - for something similar or the same. NOTE - in the paper (Riviere et al., 2012) patient 1 in the Fryns and Aftimos (2000) report has been found to have a ACTB mutation as found in the Baraitser-Winter syndrome.
Milunsky and Capin (2003) reported a 12 year old boy with features of the condition. They proposed the name cerebro-oculo-facial-lymphatic syndrome, in our view misleading as there are no ocular or lymphatic features. Forzano et al., (2004) reported a further convincing case. An MRI scan was not possible, but MR was severe. Additional features were the enlargement of liver and spleen, and a pulmonary stenosis. Another excellent example was reported by Valente et al., (2005). The pachygyria was diffuse, and the ventricles had large rounded horns, especially posteriorly. There was also a cavum septum pellucidum.
Hayes et al., (2009), reported a s0-called mild case (with pachygyria). As stated by the authors, ""whether all of these patients will be grouped together or split.......""
NB - Note the report by Eker et al., (2014) of a child with a ACTB mutation and features of Baraitser-Winter, but also of cerebro-fronto-facial III with which it overlaps. The Der Kaloustian et al., (2001) patients has now (Di Donato et al., (2014) been found to have a ACTB mutation. These latter authors argue that Fryns-Aftimos syndrome is but a severe form of Baraitser-Winter syndrome.
Two sibs and a single unrelated patient had a recognizable mental retardation syndrome, characterised by bilateral ptosis and colobomata of the iris. In addition, the eyes were widely spaced, and a broad epicanthus (especially inversus) increased the appearance of hypertelorism. The nasal bridge was flat. In all of the children, height was below the 3rd centile, whereas the head circumference was between the 10th and 25th. The Asian parents of the sibs were first cousins. One patient has subsequently been found to have pachygyria.
Pallotta (1991) reported a case with similar features and an inversion of chromosome 2 (p12q14). They noted that Ayme et al., (1979) reported a similar case with an identical chromosome rearrangement. The patient reported by Ramer et al., (1992) had many similarities. He also had pachygyria, a metopic ridge and a VSD.
Verloes (1993) reported a further possible case. In addition to the characteristic facies and a left iris coloboma, this male also had heterochromia of the iris. Seizures had occurred from 12 years but a CT scan was reported as normal.
Ramer et al., (1995) reported two new cases of the condition, and review previous cases. Fryns (1996) reported a possible case but there was no evidence of gyral malformations and intelligence was normal. This case had sensorineural deafness and chorioretinal colobomata.
Megarbane et al., (1997) reported 3 sibs with many features of the condition, but without iris colobomata. In addition, palpebral fissures slanted down quite significantly. MRI scan in one case showed ischaemic lesions in the occipital and temporal lobes and a thin corpus callosum.
Tsai et al., (2002) reported a family with dominant transmission of Teebi hypertelorism syndrome. However, one individual had an iris coloboma. Facially there are considerable similarities to Baraitser-Winter syndrome and this might cause confusion in an isolated case with mild developmental delay.
A further 2 cases were reported by Rossi et al., (2003) and the literature reviewed. The authors suggest that there is a specific pattern of brain malformation falling into the agyria-pachygyria-band spectrum.
A case including, heterotopia, was reported by Ganesh et al., (2005). Pachygyria, subcortical band heterotopia and periventricular nodular heterotopia were features in the Japanese patient reported by Shiihara et al., (2010). and frontal polymicrogyria occurred in the Egyptian case reported by Shawky et al., (2014). This latter case had iris, choroidal and optic nerve colobomata.
Riviere et al., (2012) studied a number of patients (18) and found 10 mutations in ACTB and 8 in ACTG1 in all. All were heterozygote de novo mutations. Note the report by Eker et al., (2014) of a child with an ACTB mutation and features of Baraitser-Winter, but also of cerebro-fronto-facial III with which it overlaps.
Di Donato et al., (2014) give good grounds for suggestiong that Fryns-Aftimos syndrome, is but the severe end of the spectrum of Baraitser-Winter syndrome. They add new features such as intestinal malrotation, a duplicated hallux and cleft lip and palate. LIFE IS STRANGE - in a suppliementary note (only available online) to the Riviere et al., (2012) paper it is stated that the sib -pair in the original paper (Baraitser and Winter, (1988) given the new findings of a heterozygous mutation probably did not have the Baraitser-Winter syndrome - there was no trigonocephaly and an MRI could not be performed. The single case in the same paper was followed up and a mutation has been found. On a personal note, Robin would have had a good laugh as I seem to think that he provided the single case and I the sibs - or was it the other way around!
Yates et al. (2016) reported on four new patients and provided an overview of the clinical characteristics of patients with this syndrome. Characteristic craniofacial features include trigonocephaly or metopic ridge, round face in infancy with progressive coarsening with age, hypertelorism, congenital ptosis, arched eyebrows, long and sometimes downslanting palpebral fissures and epicanthal folds. The nose is short with a broad nasal bridge, anteverted nares and depressed nasal tip. The patients have a long philtrum, thin vermillion border and macrostomia; cleft lip and palate are seen in some patients. The ears are often posteriorly rotated, small and dysplastic. Eye colobomas are present in about one -third of patients; microphthalmia is uncommon. Hearing loss is present in some cases, usually sensorineural, and can be progressive. Affected individuals have a mild to moderate short stature. Short webbed neck and pterygia may be present. Pectus deformities and wide set nipples are common. Many patients develop an unusual posture with anteverted shoulders, flexed elbows and knees; camptodactyly and clinodactyly may be present. The hallux may be broad or bifid. Cortical brain malformations are present in 60-70% of patients (frequently frontal or perisylvian pachygyria). The corpus callosum may be short, thick, hypoplastic or absent. Occasionally mild postnatal microcephaly may be present. Mild to moderate developmental delay is usually present in patients with no structural brain anomalies; pachygyria and other structural cerebral changes are associated with mild to profound intellectual disability. Epilepsy is usually associated with a structural brain anomaly. Congenital cardiac disease is present in one -third of patients. Genitourinary tract abnormalities include hydronephrosis, ectopic kidneys and undescended testes. Umbilical hernias are relatively common. Two previously reported patients have presented with haematological malignancies (acute lymphatic leukaemia and cutaneous lymphoma).
Climans et al. (2017) described a 27 year old female with Baraitser-Winter syndrome due to a heterozygous missense mutation in the ACTB gene. Clinical characteristics included developmental delay, seizures, behavioural issues (irritability, aggression, and defiance), and cochlear agenesis with hearing impairment. Seizures were generalized tonic and tonic-clonic or absence. Brain MRI showed diffuse pachygyria (predominantly frontal). The authors provided a detailed description of the seizure characteristics and electroencephalographic features of Baraitser-Winter syndrome.
Cuvertino et. al. (2017) described 33 patients with either deletions or loss of function mutations in the ACTB gene. Clinical characteristics included IUGR, feeding difficulties, hypotonia, postnatal growth retardation, microcephaly, and mild to severe intellectual disability. Dysmorphic features were wavy interrupted eyebrows, dense eyelashes, wide nose, wide mouth, prominent chin, overlapping toes, small nails, and sacral dimples.
* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]
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