Scalp-Ear-Nipple Syndrome: A Case Report

Peralta, Estela Morales; Andrés, Vivian; Betancourt, Dainé Campillo

doi:10.1155/2014/785916

Cited by 5 publications

(2 citation statements)

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“…Thus far, all tested individuals have been found to harbor heterozygous missense variants in the KCTD1 gene (Table 1), suggesting that SENS is a genetically homogenous disorder (Marneros et al ., 2013). Two previous reports of families with apparent autosomal recessive inheritance (without genetic testing) should, therefore, be considered with caution as the differential diagnosis of ectodermal dysplasia is vast and these families may represent different disorders or patients with dual diagnoses as a consequence of consanguinity (Al-Gazali et al ., 2007; Morales-Peralta et al ., 2014). Alternatively, without molecular testing, gonadal mosaicism in a parent cannot be excluded in the family reported by Morales-Peralta et al ., (2014).…”

Section: Discussionmentioning

confidence: 99%

“…Two previous reports of families with apparent autosomal recessive inheritance (without genetic testing) should, therefore, be considered with caution as the differential diagnosis of ectodermal dysplasia is vast and these families may represent different disorders or patients with dual diagnoses as a consequence of consanguinity (Al-Gazali et al, 2007;Morales-Peralta et al, 2014). Alternatively, without molecular testing, gonadal mosaicism in a parent cannot be excluded in the family reported by Morales-Peralta et al, (2014). Additionally, SENS appears to be a pan-ethnic disorder, as variants have been identified in individuals from at least five continents (Marneros et al, 2013;Su et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

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Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature

Butler

Bahrambeigi

Merrihew

et al. 2021

Clinical Dysmorphology

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Objectives Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autosomal dominant Scalp-Ear-Nipple syndrome (SENS), a type of ectodermal dysplasia characterized by aplasia cutis congenita of the scalp, hairless posterior scalp nodules, absent or rudimentary nipples, breast aplasia and external ear anomalies. We report a child with clinical features of an ectodermal dysplasia, including sparse hair, dysmorphic facial features, absent nipples, 2–3 toe syndactyly, mild atopic dermatitis and small cupped ears with overfolded helices. We also review the published cases of SENS with molecularly confirmed KCTD1 variants. Methods and results Using whole-exome sequencing, we identified a novel, de novo in-frame insertion in the broad-complex, tramtrack and bric-a-brac (BTB) domain of the KCTD1 gene. By comparing to the previously reported patients, we found that our patient’s clinical features and molecular variant are consistent with a diagnosis of SENS. Conclusions This is only the 13th KCTD1 variant described and the first report of an in-frame insertion causing clinical features, expanding the mutational spectrum of KCTD1 and SENS.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature

Butler

Bahrambeigi

Merrihew

et al. 2021

Clinical Dysmorphology

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The osgood criterion and finite‐time cosmological singularities

Kohli

2016

Annalen der Physik

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In this paper, we apply Osgood's criterion from the theory of ordinary differential equations to detect finite-time singularities in a spatially flat FLRW universe in the context of a perfect fluid, a perfect fluid with bulk viscosity, and a Chaplygin and anti-Chaplygin gas. In particular, we applied Osgood's criterion to demonstrate singularity behaviour for Type 0/big crunch singularities as well as Type II/sudden singularities. We show that in each case the choice of initial conditions is important as a certain number of initial conditions leads to finitetime, Type 0 singularities, while other precise choices of initial conditions which depend on the cosmological matter parameters and the cosmological constant can avoid such a finite-time singularity. Osgood's criterion provides a powerful and yet simple way of deducing the existence of these singularities, and also interestingly enough, provides clues of how to eliminate singularities from certain cosmological models.

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Finlay-Marks Syndrome

Chen¹

2016

Atlas of Genetic Diagnosis and Counseling

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Scalp-Ear-Nipple Syndrome: A Case Report

Cited by 5 publications

References 5 publications

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature

The osgood criterion and finite‐time cosmological singularities

Finlay-Marks Syndrome

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