Ablepheron Macrostomia Syndrome

Abstract

SUMMARY Two male children are reported with similar clinical features, including absent eyelids, eyebrows, eyelashes and hair, fusion defects of the mouth, expressionless facies, rudimentary external ears (but normal hearing), ambiguous genitalia, absent or rudimentary nipples, coarse dry skin with redundant skin folds and delayed expressive language development. The relationship of this syndrome to previously reported cryptophthalmos syndromes is discussed. RÉSUMÉ Macrostomie et ablepharie Les auteurs décrivent les caractéristiques cliniques identiques de deux garçons présentant une absence de paupières, de sourcils, de cils et de cheveux, une fusion défectueuse de la bouche, un faciès sans expression, un développement génital ambigu, des oreilles rudimentaires avec audition normale et un retard du langage oral. La relation de ce syndrome au syndrome cryptophthalmique précédemment rapporté est discutée. ZUSAMMENFASSUNG Ablepharon‐Makrostomie‐Syndrom Es werden zwei männliche Neugeborene beschrieben, die ähnliche klinische Merkmale aufwiesen: fehlende Augenlider, Augenbrauen, Wimpern und Haare, Fusionsdefekte des Mundes, ausdrucksloses Gesicht, Zwittergenitale, rudimentäre Ohren mit normaler Hörfunktion und verzögerte Entwicklung der expressiven Sprache. Es wird über die Zusammenhänge zwischen diesem Syndrom und schon früher beschriebenen cryptoph‐thalmischen Syndromen diskutiert. RESUMEN Sindrome de Ableferon con macrostomia Se presentan dos niños varones con unas caracteristicas clinicas similares incluyendo ausencia de párpados, de cejas, de pestañas y de cabello, defectos de fusión en la boca, falta de expresión en la facies, genitales ambiguos, orejas rudimentarias pero con audición normal y retraso en el desarrollo del lenguaje expresivo. Se discute la relatión de este sindrome con síndromes de criftoftalmia anteriormente aportados.

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

“…A single AMS patient was found to have entropion [Stevens and Sargent, 2002]. Strabismus was also present in three BSS patients [Barber et al, 1982;David et al, 1991;Roche et al, 2010] and three AMS patients [McCarthy and West, 1977;Hornblass and Reifler, 1985;Jackson et al, 1988], and nystagmus was reported in BSS [David et al, 1991] and AMS as well [Hornblass and Reifler, 1985;Cruz et al, 1995].…”

“…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.…”

“…Dolichocephaly was present at birth in three patients [McCarthy and West, 1977;Cesarino et al, 1988;Mazzanti et al, 1998] but the shape of the head became normal with time. Bitemporal narrowing and flat malae are present in both syndromes, protrusion of the maxilla (Fig.…”

“…In 1977 the neuro-pediatrician Gillian T. McCarthy and her assistant Carolyn West [McCarthy and West, 1977] described two patients with absent eyelids, large mouth, and multiple other anomalies that they named ablepharon-macrostomia syndrome (AMS). 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].…”

A susceptibility locus on 1p32–1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation

“…On occasion, it can be a sign in certain syndromes, such as Goldenhar syndrome or Treacher-Collin syndrome [McCarthy and West, 1977]. Rarely, it occurs as an isolated malformation.…”