منابع مشابه
Aplasia Cutis Congenita of the Scalp with a Familial Pattern: A Case Report
Aplasia Cutis Conginita (ACC) is a condition characterized by congenital absence of skin, usually on the scalp. ACC can occur as an isolated condition or in the presence of other congenital anomalies. Here we describe a case of a 16 days old baby girl with an isolated ACC of the scalp. Her elder two siblings have been diagnosed with ACC with concomitant cardiac or limb anomalies. The patient wa...
متن کاملBiallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
PURPOSE To identify the genetic cause of autosomal recessive familial foveal retinoschisis (FFR). METHODS A female sibship with FFR was identified (Family-A; 17 and 16 years, respectively); panel based genetic sequencing (132 genes) and comparative genome hybridization (142 genes) were performed. Whole-exome sequencing (WES) was performed on both siblings using the Illumina-HiSeq-2500 platfor...
متن کاملaplasia cutis congenita of the scalp with a familial pattern: a case report
aplasia cutis conginita (acc) is a condition characterized by congenital absence of skin, usually on the scalp. acc can occur as an isolated condition or in the presence of other congenital anomalies. here we describe a case of a 16 days old baby girl with an isolated acc of the scalp. her elder two siblings have been diagnosed with acc with concomitant cardiac or limb anomalies. the patient wa...
متن کاملAplasia Cutis Congenita of the Scalp with a Familial Pattern: A Case Report
Aplasia Cutis Conginita (ACC) is a condition characterized by congenital absence of skin, usually on the scalp. ACC can occur as an isolated condition or in the presence of other congenital anomalies. Here we describe a case of a 16 days old baby girl with an isolated ACC of the scalp. Her elder two siblings have been diagnosed with ACC with concomitant cardiac or limb anomalies. The patient wa...
متن کاملA Familial Case of Aplasia Cutis Congenita in Two Korean Siblings: A Review of Genetic Aspects
Vol. 29, No. 5, 2017 663 Received June 16, 2016, Revised August 20, 2016, Accepted for publication October 19, 2016 Corresponding author: Ohsang Kwon, Department of Dermatology, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea. Tel: 82-2-2072-2417, Fax: 82-2-742-7344, E-mail: [email protected] This is an Open Access article distributed under the terms o...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2017
ISSN: 1755-375X
DOI: 10.1111/j.1755-3768.2017.0f021