Results 31 to 40 of about 466 (140)

Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next‐generation sequencing

Journal of Clinical Laboratory Analysis, Volume 35, Issue 6, June 2021., 2021
Abstract Background Waardenburg syndrome (WS) is a genetically heterogeneous syndrome with both autosomal recessive and dominant inheritance. WS causes skin and iris pigmentation accumulation and sensorineural hearing loss, in varying degrees. There are four WS types with different characteristics.
Mahzad Nasirshalal, Mohammad Panahi, Nahid Javanshir, Hamzeh Salmani   +3 more
wiley   +1 more source

Proton therapy: A therapeutic opportunity for aggressive pediatric meningioma

Pediatric Blood &Cancer, Volume 68, Issue 5, May 2021., 2021
Abstract Meningiomas are an extremely rare histology among pediatric brain tumors, and there is a shortage of literature on their management. Proton therapy is currently used safely and effectively for many types of both pediatric and adult cancer, and its main advantage is the sparing of healthy tissues from radiation, which could translate in the ...
Barbara Rombi, Alessandro Ruggi, Iacopo Sardi, Mino Zucchelli, Mirko Scagnet, Francesco Toni, Silvia Cammelli, Giulia Giulietti, Viscardo Paolo Fabbri, Francesca Gianno, Maurizio Amichetti, Torunn Ingrid Yock, Alessio Giuseppe Morganti, Andrea Pession, Fraia Melchionda   +14 more
wiley   +1 more source

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing

Frontiers in Genetics, 2021
Waardenburg syndrome (WS) is a group of autosomal-dominant hereditary conditions with a global incidence of 1/42,000. WS can be categorized into at least four types: WS1–4, and these are characterized by heterochromia iridis, white forelock, prominent ...
Jie-Yuan Jin, Jie-Yuan Jin, Lei Zeng, Bing-Bing Guo, Yi Dong, Ju-Yu Tang, Rong Xiang, Rong Xiang, Rong Xiang, Rong Xiang   +9 more
doaj   +1 more source

Cosmetic Syndrome Correction with Calcium Hydroxylapatite‐Based Filler in Patients with Connective Tissue Dysplasia

Dermatology Research and Practice, Volume 2021, Issue 1, 2021., 2021
Undifferentiated connective tissue dysplasia is one of the most common diseases of nowadays, which does not fit into the group of hereditary syndromes. This condition is diagnosed in 20–50% of the population at any age. The study aimed to correct the facial soft tissues of patients with undifferentiated connective tissue dysplasia through the cosmetic ...
Maria Shirshakova, Elena Morozova, Daria Sokolova, Svetlana Pervykh, Lyailya Kayumova, E. Helen Kemp   +5 more
wiley   +1 more source

A very rare association of fuchs heterochromic uveitis and ectropion uvea in usher syndrome

Advanced Biomedical Research, 2021
Usher syndrome is a heterogeneous genetic disease that is the most common cause of hereditary blindness–deafness. This syndrome is the most prevalent syndrome associated with retinitis pigmentosa.
Leila Rezaei, Rashed Ahmadyani
doaj   +1 more source

The ever ongoing cosmetic quest to change eye colour. [PDF]

Acta Ophthalmol
Abstract Purpose To provide a historical overview of the various efforts to change eye colour for purely cosmetic reasons, along with the associated potential risks and harms. Methods Literature and online search. Results Eye drops containing adrenaline were used during World War II on involuntary inmates of concentration camp Auschwitz‐Birkenau ...
Zegers RHC.
europepmc   +2 more sources

Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1

Frontiers in Genetics, 2021
Background: Waardenburg Syndrome Type 1 (WS1) is a rare hereditary disease, which is usually caused by the mutations of PAX3 (paired box 3). Here, we reported a pedigree with WS1, which was caused by a novel mutation in PAX3.Case Report: In this present ...
Qiuming Hu, Huazhong Ma, Jiawei Shen, Zongming Zhuang, Zongming Zhuang, Jianqiang Li, Xinlan Huang, Xian Li, Haoyu Li, Haoyu Li   +9 more
doaj   +1 more source

Birth palsy in congenital varicella syndrome: A lesson in anatomy

Indian Journal of Plastic Surgery, 2018
While brachial plexus palsy sustained due to birth trauma is well known, congenital palsies are decidedly rare. We report such a case caused by congenital varicella syndrome, with associated congenital Horner's syndrome and heterochromia iridis.
Ajeesh Sankaran, Praveen Bhardwaj, Hari Venkatramani, Shanmuganathan Raja Sabapathy   +3 more
doaj   +1 more source

A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome

BMC Medical Genomics, 2022
Background Waardenburg syndrome (WS) is the most common form of syndromic deafness with phenotypic and genetic heterogeneity in the Chinese population.
Sijun Li, Mengyao Qin, Shuang Mao, Lingyun Mei, Xinzhang Cai, Yong Feng, Chufeng He, Jian Song   +7 more
doaj   +1 more source

Neuroblastoma in a Case with Congenital Horner’s Syndrome

Türk Oftalmoloji Dergisi, 2014
Miosis, ptosis, and ipsilateral facial anhidrosis are normally present in Horner’s syndrome. Pathologies which show central, preganglionic and postganglionic residence in sympathetic chain are present in its etiology.
Hüseyin Mayalı, Süleyman Sami İlker, Şaban Kılıç   +2 more
doaj   +1 more source