Barber-Say syndrome: further delineation of the clinical spectrum

Abstract

The patient, last of eight otherwise healthy siblings (four boys, four girls), presently 14 years old, was born at term, after the eighth pregnancy of healthy, nonconsanguineous parents (father and mother were 41 and 42 years old, respectively), with no relevant family history. Pregnancy and delivery were normal, with weight of 3400 g, and 50 cm in length at birth. Striking dysmorphic features were immediately noted: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism especially of the back. No other visceral abnormalities were observed during the neonatal period.Evaluated at the age of 13 ( Figure 1A,B), the patient showed normal mental development. Her anthropometric measurements were: height, 147.5 cm (10th percentile); weight, 37.4 kg (15th percentile), and head circumference, 52.2 cm (40th percentile). Her principal facial features were: aged appearance, ablepharon, ectropion, sparse eyebrows and eyelashes, hypertelorism, telecanthus, bulbous nose with anteverted nares, macrostomia with thin lips, prognatism, abnormally and low set small ears with a prominent antihelix, neither tragus nor lobule, and abnormal CASE REPORTBarber-Say syndrome: further delineation of the clinical spectrum AbstractWe report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism, the 5th reported case of Barber-Say syndrome. Our patient had almost the same phenotype as that of the patient cited by Martínez Santana et al. (Am. J. Med. Genet. 47: 20-23, 1993) including the same until then undescribed dermatoglyphic pattern.

Barber–Say syndrome in a father and daughter

“…The underlying mechanism seems to result from abnormal ectoderm development, leading to redundant and atrophic skin, unusual dermatoglyphic pattern, deficient or excessive hair growth and hypoplastic or absent nipples [Mazzanti et al, 1998;Dinulos and Pagon, 1999;Cort es et al, 2000]. The eyelid abnormalities may be attributed to dysfunctional features of the external and internal eyelid anatomy [Ng and Rajguru, 2006].…”

“…A total of 11 cases (7 girls, 4 boys) have been reported in the literature [Barber et al, 1982;David et al, 1991;Martinez Santana et al, 1993;Sod et al, 1997;Mazzanti et al, 1998;Dinulos and Pagon, 1999;Cort es et al, 2000;Ng and Rajguru, 2006;Tenea and Jacyk, 2006;Haensel et al, 2009]. The syndrome is characterized by severe hypertrichosis especially at the back, skin abnormalities such as hyperlaxity/redundancy and facial deformities such as macrostomia, eyelid deformities, ocular telecanthus (increased distance between inner canthi), abnormal and low set ears, bulbous nasal tip with hypoplastic alae nasi and low frontal hairline.…”

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

“…A small chin is present in more than one-third of patients in both syndromes, prognatia can occur in BSS [David et al, 1991;Dinulos and Pagon, 1999;Cort es et al, 2000], and also retrognatia has been described ( Fig. 5) [Cesarino et al, 1988;Mazzanti et al, 1998].…”

“…The occurrence in two generations suggested autosomal dominant inheritance [Dinulos and Pagon, 1999;Roche et al, 2010]. In total 19 patients have been published as having BSS [Barber et al, 1982;David et al, 1991;Martinez Santana et al, 1993;Sod et al, 1997;Mazzanti et al, 1998;Dinulos and Pagon, 1999;Cort es et al, 2000;Ng and Rajguru, 2006;Tenea and Jacyk, 2006;Haensel et al, 2009;Martins et al, 2010;Roche et al, 2010;Suga et al, 2014;Marchegiani et al, 2015;Singh et al, 2016].…”

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

“…5,6,11,19,20,24 BSS is characterized by The American Journal of Human Genetics 97, 1-12, July 2, 2015 3 ectropion, macrostomia, ear abnormalities, bulbous nose with hypoplastic alae nasi, redundant skin, hypertrichosis, and variable other features. 14,16,21,23,25,26 Several instances of parent-to-child transmission suggest that both AMS and BSS are inherited in an autosomal-dominant fashion, 2,8,9,21,22 but no specific gene defect has been associated with these disorders. The substantial phenotypic overlap between AMS and BSS, as well as a shared mode of inheritance, supports the hypothesis that the two disorders are caused by dominant mutations in the same gene.…”