Scalp-Ear-Nipple Syndrome: A Case Report-Reference-Cited by-同舟云学术

Scalp-Ear-Nipple Syndrome: A Case Report

Published:2014 Issue: Volume:2014 Page:1-2
ISSN:1687-9627
Container-title:Case Reports in Medicine
language:en
Short-container-title:Case Reports in Medicine

Author:

Morales-Peralta Estela¹,Andrés Vivian²,Campillo Betancourt Dainé²

Affiliation:

1. National Center of Medical Genetics, 146, No. 3102, Playa, 11600 La Habana, Cuba

2. Genetic Counselor, Center of Medical Genetics, Sibanicú Municipality, Camaguey, Cuba

Abstract

The scalp-ear-nipple (SEN) syndrome is an infrequent congenital disease. Its main features are scalp defects, malformed ears, and absence of nipples. Most of the reported cases are autosomal dominant. We report on a patient suffering SEN syndrome with possible autosomal recessive inheritance. It is concluded that SEN syndrome should be recognized as an entity with genetic heterogeneity once there is evidence of different genetic manner of inheritance described in this disease.

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/crim/2014/785916.pdf

Reference5 articles.

1. An hereditary syndrome of lumpy scalp, odd ears, and rudimentary nipples

2. Hypotonia, developmental delay and features of scalp–ear–nipple syndrome in an inbred Arab family

3. Hypothelia, syndactyly, and ear malformation?a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature

4. Finlay–Marks (SEN) syndrome: A sporadic case and the delineation of the syndrome

5. Probing the Gene eXpression Database for candidate genes

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Variants in KCTD1 Are Associated with Isolated Dental Anomalies;International Journal of Molecular Sciences;2024-05-09

2. Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature;Clinical Dysmorphology;2021-08-26

3. Genodermatoses with teeth abnormalities;Oral Diseases;2020-02-25

4. Finlay-Marks Syndrome;Atlas of Genetic Diagnosis and Counseling;2017

5. The osgood criterion and finite-time cosmological singularities;Annalen der Physik;2016-04-29