Lid agenesis‐macrostomia‐psychomotor retardation‐forehead hypertrichosis—A new syndrome?

Abstract

We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown.

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

“…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...…”

“…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.…”

“…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.…”

“…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.…”

Oral and dental abnormalities in Barber–Say syndrome

“…AMS and BBS are both characterized by macrostomia, hypertelorism, or telecanthus; abnormal nose and ears; aplasia or hypoplasia of nipples; and redundancy of the skin. However AMS ablepharon is characterized by no hair at birth, late development of sparse, thin hair, and total absence of lanugo [Cesarino et al, 1988;Mazzanti et al, 1998;Tenea and Jacyk, 2006]. According to Mazzanti et al [1998] and to Pellegrino et al [1996], patients with AMS share many phenotypic features with BSS patients, suggesting that these disorders may be allelic.…”