Clinical Variant of Ablepharon Macrostomia Syndrome

Larumbe, Jose; Villalta, Patricia; Velez, Inés

doi:10.1155/2011/593045

Cited by 4 publications

(6 citation statements)

References 8 publications

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“…If uncertainties remained the feature was not scored for the patient involved. Several patients were excluded as likely a different disorder was present [Pellegrino et al, 1996;Amor and Savarirayan, 2001;Cavalcanti et al, 2007;Kallish et al, 2011;Larumbe et al, 2011;Suga et al, 2014], or we remained uncertain about the diagnosis (please see Differential Diagnosis for a more detailed discussion of these reports) [Sod et al, 1977;Dinulos and Pagon, 1999 (patient 2); Ng and Rajguru, 2006].…”

Section: Methodsmentioning

confidence: 99%

“…The latter two patients [Amor and Savarirayan, 2011;Kallish et al, 2011] tested negatively for TWIST2 mutations [Marchegiani et al, 2015]. Lastly, the patient reported by Larumbe et al [2011] clearly had severe congenital ichthyosis. One patient showing an overlap between Fraser syndrome and AMS was subsequently found to harbor a homozygous splice site mutation in FRAS1, confirming the diagnosis of Fraser syndrome [Cavalcanti et al, 2007;Schanze et al, 2013].…”

Section: Differential Diagnosismentioning

confidence: 99%

“…Since then, 19 patients were reported as having AMS [Hornblass and Reifler, 1985;Cesarino et al, 1988;Jackson et al, 1988;Markouizos et al, 1990;Price et al, 1991;Cruz et al, 1995;Pellegrino et al, 1996;Ferraz et al, 2000;Amor and Savarirayan, 2001;Stevens and Sargent, 2002;Brancati et al, 2004;Cavalcanti et al, 2007;Kallish et al, 2011;Rohena et al, 2011;Larumbe et al, 2011;Feinstein et al, 2015]. McCarthy and West [1988] suggested an autosomal recessive pattern of inheritance due to the resemblance of the phenotype with other entities with eyelid abnormalities that followed this pattern of inheritance.…”

Section: Introductionmentioning

confidence: 99%

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Barber–Say syndrome and Ablepharon–Macrostomia syndrome: An overview

Maria

Mazzanti

Roche

et al. 2016

American J of Med Genetics Pt A

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Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or insufficient data for reliable confirmation of the diagnosis. There remain 16 reliably diagnosed individuals with BSS and 16 with AMS. Major facial characteristics present in both entities, albeit often in differing frequencies, are excessive facial creases, hypertelorism, underdevelopment of the anterior part of the eyelids (anterior lamella), ectropion, broad nasal ridge and tip, thick and flaring alae nasi, protruding maxilla, wide mouth, thin upper vermillion, and attached ear lobes. In BSS a remarkable extension of the columella on the philtrum can be seen, and in both the medial parts of the cheeks bulge towards the corners of the mouth (cheek pads). Scalp hair is sparse in AMS only, but sparse eyebrows and eyelashes occur in both entities, and general hypertrichosis occurs in BSS. We compare these characteristics with those in Setleis syndrome which can also be caused by TWIST2 mutations. The resemblance between the three syndromes is considerable, and likely differences seem larger than they actually are due to insufficiently complete evaluation for all characteristics of the three entities in the past. It is likely that with time it can be concluded that BSS. AMS and Setleis syndrome form a continuum.

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Section: Methodsmentioning

confidence: 99%

Section: Differential Diagnosismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Barber–Say syndrome and Ablepharon–Macrostomia syndrome: An overview

Maria

Mazzanti

Roche

et al. 2016

American J of Med Genetics Pt A

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“…In the case of bilateral macrostomia, the surgeon must define the commissure position without a normal contralateral guide. Repair thus requires the use of extraoral landmarks and normal measurements 2 6 8…”

Section: Discussionmentioning

confidence: 99%

Bilateral macrostomia

Mohan¹,

Verma

Agarwal

et al. 2013

BMJ Case Reports

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Macrostomia as a rare facial deformity is classified among facial clefts. It is a rare congenital anomaly which affects the aesthetics and function of the oral cavity. It is usually associated with deformities of other structures developed from the first and second branchial arches. Bilateral transverse cleft occurring alone is uncommon. Here we report a case of bilateral macrostomia (bilateral lip cleft) in a 5-year-old girl as a sole entity without other skeletal and facial deformities.

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“…Dados das mutações anotadas.. ................................................................................34 Tabela 4. Dados Desde a primeira documentação da síndrome, apenas 17 casos foram relatados, oito pacientes do sexo feminino e nove do sexo masculino (MCCARTHY;WEST, 1977;HORNBLASS;REIFLER, 1985;MARKOUIZOS et al, 1990;PRICE et al, 1991;CRUZ et al, 1995;PELEGRINO et al, 1996;FERRAZ et al, 2000;AMOR;SAVARIRAYAN, 2001;SARGENT, 2002;BRACANTI et al, 2004;CAVALCANTI et al, 2007;KALLISH et al, 2011;LARUMBE et al, 2011;ROHENA et al, 2011 (PELLEGRINO et al, 1996). Porém, nenhum outro paciente com SAM apresentou alteração no cariótipo, e nenhum gene foi ainda definitivamente relacionado à síndrome.…”

Section: Introductionunclassified

Determinação da Base Molecular da Síndrome Ablefaria Macrostomia

Silva¹

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Agradeço primeiramente a Deus, por ser tão afortunada de amor nessa vida. Agradeço aos meus mestres, Prof. Dr. Victor Ferraz e Prof. Dr. Wilson Araújo, por todo apoio, ajuda e amizade durante a construção da minha carreira. Aos mestres de formação pessoal e profissional Verônica Roncelli e André Lima, com vocês aprendi muito, serei sempre grata. Agradeço aos meus pais, Josi e Jackson, que tanto me amam e me apoiam nas minhas aventuras e desventuras em série. Sem o apoio de vocês, eu nada seria. Agradeço à minha irmã Vitória, por quem tenho enorme apreço e que enche meu coração de alegria. Agradeço aqui ao meu namorado Juca, por tantos anos de companheirismo e amor, são tantas histórias e tantos momentos vividos, que não há como esquecer. Às minhas avós Maria, Marilu e Odélia, e ao meu avô Gustavo. É tanto amor, conselhos e dicas de como ser feliz, que essas linhas jamais serão suficientes para expressar minha gratidão. Aos meus tios-irmãos Meri, Rodrigo e Michele e às suas crianças amadas, que me causam um vazio no coração de saudade. À minha família por opção: Marli, Gelso, Ricardo, Flávia e a pequena Paola, por todo o carinho e atenção que sempre tiveram comigo. Ao Marcos e à Marcela, pois por mais imprevisível que seja a vida, ela sempre nos dá uma segunda chance. Ao meu tio Marcelo, a Tati e meus primos, por me acolher e receber sempre tão bem em sua casa. Ao meu primo e grande amigo Eduardo, por quem tenho muito carinho e sei que posso contar. Agradeço às minhas queridas de longa data Babi e Taci, com quem partilho todos os bons e maus momentos da minha vida, a vocês eu serei eternamente grata. Às minhas amigas Salesianas: Pêra, Gabi, Ana, Rá, Mari, Amanda e Taisa, aos muitos anos de amizade, jogos e folias. Ao meu hexágono: Nika, Jô, Bá e Jenny, com vocês os anos de faculdade passaram voando, tudo foi muito mais divertido. A todos os meus amigos abraçados por essa cidade do interior, que formaram comigo uma nova família: Simone,

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Clinical Variant of Ablepharon Macrostomia Syndrome

Cited by 4 publications

References 8 publications

Barber–Say syndrome and Ablepharon–Macrostomia syndrome: An overview

Barber–Say syndrome and Ablepharon–Macrostomia syndrome: An overview

Bilateral macrostomia

Determinação da Base Molecular da Síndrome Ablefaria Macrostomia

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