A case of Barber‐Say syndrome in a male Japanese newborn

Suga, Kenichi; Shono, Miki; Goji, Aya; Matsuura, Sato; Inoue, Miki; Kawahito, Masami; Michiyo, Kinoshita; Takeda, M.; Mori, Kazuhiro

doi:10.1002/ccr3.128

Cited by 7 publications

(9 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The patient reported by Suga et al [2014] showed a phenotype differing from BSS both in eye, face and body phenotype despite some overlap with BSS. At follow-up these differences have increased, and signs distinctive of BSS were noticed which; however, did not allow a clinical diagnosis up to now (personal communication 2015, Dr Kenichi Suga).…”

Section: Differential Diagnosismentioning

confidence: 92%

“…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 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].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Maria

Mazzanti

Roche

et al. 2016

American J of Med Genetics Pt A

View full text Add to dashboard Cite

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.

show abstract

Section: Differential Diagnosismentioning

confidence: 92%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Maria

Mazzanti

Roche

et al. 2016

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…We collected data from all 20 reported cases of BSS and analysed their clinical findings and compared them with our two cases (Cesarino et al, 1988;Martins et al, 2010;Roche et al, 2010;Suga et al, 2014;Marchegiani et al, 2015). The presence of this genotype supports that E75Q is a recurrent mutation and responsible for disease irrespective of ethnicity.…”

Section: Introductionmentioning

confidence: 73%

Transmission of Barber–Say syndrome from a mosaic father to his child in an Indian family

Singh¹,

Schanze

Agarwal

et al. 2016

Clinical Dysmorphology

View full text Add to dashboard Cite

“…were the first to report multiple congenital abnormalities such as macrostomia, ectropion, hypertrichosis, and growth retardation in a 3‐year‐old girl. According to the literature, only 15 cases of BSS have been reported since that time . Recently, it has been postulated that BSS and ablepharon macrostomia syndrome (AMS) could represent one disorder due to their similar patterns of organ involvement including skin, hair, eyes, face, and external genitalia .…”

Section: Introductionmentioning

confidence: 99%