Ablepharon macrostomia syndrome.

Price, N. J.; Pugh, Robert; Farndon, Peter; Willshaw, H E

doi:10.1136/bjo.75.5.317

Cited by 30 publications

(30 citation statements)

References 9 publications

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“…The anterior parts of the eyelids vary in their underdevelopment from being extremely small in AMS to minor reduction in size in BSS, to even less marked expression in a coloboma in a mosaic patient and absence of eyelashes only of the medially lower lid [Marchegiani et al, 2015]. The underdeveloped anterior lamella causes ectropion, causing in turn lagophtalmus, which may need surgical correction [McCarthy and West, 1977;David et al, 1991;Price et al, 1991;Cruz et al, 1995;Ferraz et al, 2000;Stevens and Sargent, 2002;Brancati et al, 2004;Martins et al, 2010;Roche et al, 2010;Rohena et al, 2011;Feinstein et al, 2015;Marchegiani et al, 2015]. The continuous exposure may cause corneal clouding occurring in half of the patients with AMS.…”

Section: Facementioning

confidence: 96%

“…The columella can be broad Barber et al [1982]; (2) David et al [1991]; (3) Martinez Santana et al [1993]; (4) Mazzanti et al [1998]; (5) Barber et al [1982]; (2) David et al [1991]; (3) Martinez Santana et al [1993]; (4) Mazzanti et al [1998]; (5) Marchegiani et al [2015]; (12) Martins et al [2010]; (13-15) Marchegiani et al [2015]; (16) Singh et al [2016]. AMS: (17) McCarthy and West [1977]; (18) McCarthy and West [1977] and Jackson [1988]; (19) Hornblass and Reifler [1985]; (20) Cesarino et al [1988]; (21) Price et al [1991]; (22) Barber et al [1982]; (2) David et al [1991]; (3) Martinez Santana et al [1993]; (4) Mazzanti et al [1998]; (5) Dinulos (patient 1) [1999]; (6) Cort es et al [2000]; (7) Tenea and Jacyk [2006]; (8) Haensel et al [2009]; (9-10) Roche et al [2010]; (11) Marchegiani et al [2015]; (12) Martins et al [2010]; (13-15) Marchegiani et al [2015]; (16) Singh et al [2016]. AMS: (17) McCarthy and West [1977]; (18...…”

Section: Facementioning

confidence: 96%

“…Skin biopsies were performed in six BSS and three AMS patients. In some no abnormalities were found [Price et al, 1991;Mazzanti et al, 1998;Roche et al, 2010], others showed a decreased number of elastic fibers [Barber et al, 1982;Cesarino et al, 1988;David et al, 1991;Brancati et al, 2004;Tenea and Jacyk, 2006], or hair follicles and sebaceous glands attached to the subcutaneous tissue, an atrophic epidermis with hyperkeratosis and a thin reticular layer of the dermis [Martinez Santana et al, 1993].…”

Section: Ectodermally Derived Structuresmentioning

confidence: 98%

“…AMS: (17) McCarthy and West [1977]; (18) McCarthy and West [1977] and Jackson [1988]; (19) Hornblass and Reifler [1985]; (20) Cesarino et al [1988]; (21) Price et al [1991]; (22) Barber et al [1982]; (2) David et al [1991]; (3) Martinez Santana et al [1993]; (4) Mazzanti et al [1998]; (5) Dinulos (patient 1) [1999]; (6) Cort es et al [2000]; (7) Tenea and Jacyk [2006]; (8) Haensel et al [2009]; (9-10) Roche et al [2010]; (11) Marchegiani et al [2015]; (12) Martins et al [2010]; (13-15) Marchegiani et al [2015]; (16) Singh et al [2016]. AMS: (17) McCarthy and West [1977]; (18) McCarthy and West [1977] and Jackson [1988]; (19) Hornblass and Reifler [1985]; (20) Cesarino et al [1988]; (21) Price et al [1991]; (22) Cruz et al [1995]; (23-24) Ferraz et al [ Barber et al, 1982;Mazzanti et al, 1998;Rohena et al, 2011], and may show a remarkable extension onto the philtrum. The philtrum itself is typically long.…”

Section: Facementioning

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: 97%

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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: Facementioning

confidence: 96%

Section: Facementioning

confidence: 96%

Section: Ectodermally Derived Structuresmentioning

confidence: 98%

Section: Facementioning

confidence: 99%

Section: Introductionmentioning

confidence: 97%

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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: Report of a new case

et al. 1998

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We present a girl with lax, redundant skin, ectropion, bulbous nose, macrostomia, and absence of mammary glands. To our knowledge, she represents the fourth described case of Barber-Say Syndrome (BSS). BSS and ablepharon macrostomia syndrome (AMS) share common and distinctive clinical manifestations that involve the same structure of the skin and adnexa. We hypothesize that they may derive from a defective regulation of the same gene.

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