Macrostomia, ectropion, atrophic skin, hypertrichosis: Another observation

David, Albert; Gordeeff, A; Badoual, J; Delaire, J

doi:10.1002/ajmg.1320390124

Cited by 33 publications

(39 citation statements)

References 3 publications

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“…Histology of the skin may show decreased elastic fibers and hypocollagenosis [Barber et al, 1982;David et al, 1991], but may also be normal [Sod et al, 1997] as shown in the histological examination of the excised skin tags of the girl here reported. Although these patients survive and most of them have normal psychomotor development, their aesthetic and social impairment, due to the craniofacial anomalies and generalized hypertrichosis, can sometimes be very debilitating.…”

Section: Discussionmentioning

confidence: 72%

“…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.…”

Section: Introductionmentioning

confidence: 99%

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Barber–Say syndrome in a father and daughter

Roche¹,

Houtmeyers²,

Janssens³

et al. 2010

American J of Med Genetics Pt A

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We report on a father to daughter transmission of Barber-Say syndrome (BSS), a rare, congenital disorder characterized by severe generalized hypertrichosis, macrostomia, ocular telecanthus, bulbous nose and atrophic skin. These two cases further support the autosomal dominant inheritance. Both presented with the typical BSS symptoms but the phenotypic expression in the father was milder. Treatment is challenging for both patients and doctors, requiring a multidisciplinary approach.

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Section: Discussionmentioning

confidence: 72%

Section: Introductionmentioning

confidence: 99%

Barber–Say syndrome in a father and daughter

Roche¹,

Houtmeyers²,

Janssens³

et al. 2010

American J of Med Genetics Pt A

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“…The clinical features of BSS include a ''senile'' appearance caused by dry, loose, redundant skin particularly on the forehead, neck and trunk, as well as in the antecubital and popliteal areas; hypoplasia of the mammary glands and nipples; hypoplastic genitalia; ectropion; atrophic skin; hypertrichosis; and growth retardation [Sod et al, 1997;Mazzanti et al, 1998]. Histopathological analysis of the skin shows atrophic epidermis with slight orthohyperkeratosis; thin, reticular dermis; almost complete absence of elastic fibers and hypocollagenosis [David et al, 1991;Tenea and Jacyk, 2006].…”

Section: Introductionmentioning

confidence: 98%

Oral and dental abnormalities in Barber–Say syndrome

Martins¹,

Ortega²,

Hiraoka³

et al. 2010

American J of Med Genetics Pt A

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A previously unreported case of Barber-Say syndrome is described with special attention to dental manifestations. A 7-year-old female with multiple congenital anomalies such mammary gland hypoplasia, hypertrichosis, ectropion, and redundant skin was seen at the School of Dentistry of the University of São Paulo. Oral examination revealed macrostomia, broad alveolar ridges, gingival fibromatosis, taurodontism, delayed tooth eruption, and malocclusion. Dental treatment included gingivoplasty and orthodontic treatment.

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“…A second case was reported by David et al in 1991, with almost the same phenotype, a third case by Martínez Santana et al (1993), and finally Mazzanti et al (1998) reported the fourth known case, with the same malformation pattern. Here we report an additional case with exactly the same multiple congenital anomaly pattern.…”

Section: Introductionmentioning

confidence: 86%

Barber-Say syndrome: further delineation of the clinical spectrum

et al. 2000

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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.

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Macrostomia, ectropion, atrophic skin, hypertrichosis: Another observation

Abstract: We report on a boy with bilateral ectropion, ocular hypertelorism, bulbous nose, macrostomia with thin lips, abnormal ears, hypertrichosis of the forehead, neck and back, atrophic skin with hypoplastic nipples. Cause and inheritance are unknown.

Cited by 33 publications

References 3 publications

Barber–Say syndrome in a father and daughter

Barber–Say syndrome in a father and daughter

Oral and dental abnormalities in Barber–Say syndrome

Barber-Say syndrome: further delineation of the clinical spectrum

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