A Child with Hallermann-Streiff Syndrome; as an Infrequent Cause of Hypotrichosis and Cataract

التفاصيل البيبلوغرافية
العنوان: A Child with Hallermann-Streiff Syndrome; as an Infrequent Cause of Hypotrichosis and Cataract
المؤلفون: Nihat Demir, Murat Doğan, Selami Kocaman, Sekibe Zehra Dogan, Keziban Bulan, Sultan Kaba, Nesrin Ceylan
المصدر: Medical Science and Discovery. 3:206
بيانات النشر: Lycia Press London UK, 2016.
سنة النشر: 2016
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, genetic structures, medicine.diagnostic_test, business.industry, Pediatric endocrinology, Scaphocephaly, Physical examination, medicine.disease, Microphthalmia, eye diseases, Surgery, 03 medical and health sciences, 0302 clinical medicine, Hallermann–Streiff syndrome, 030225 pediatrics, Medicine, Hypotrichosis, Outpatient clinic, sense organs, 030212 general & internal medicine, business, Strabismus
الوصف: In present case report, four-months-old boy who referred to our pediatric endocrinology outpatient clinic from department of ophthalmology due to evaluation of endocrine and metabolic disorders for cataract was discussed. The characterized features of patient were hypotrichosis, microphthalmia, nystagmus, strabismus, congenital cataract, beaked nose, micrognathia, scaphocephaly, frontal and parietal bossing. The case has typical dysmorphic physical examination findings that appropriate diagnostic features to rare Hallermann-Streiff syndrome.
تدمد: 2148-6832
DOI: 10.17546/msd.98327
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::91094d205fd7c7134ba0f2e51390a45e
https://doi.org/10.17546/msd.98327
Rights: OPEN
رقم الانضمام: edsair.doi...........91094d205fd7c7134ba0f2e51390a45e
قاعدة البيانات: OpenAIRE
الوصف
تدمد:21486832
DOI:10.17546/msd.98327