4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

We encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2. ARS is characterized by the aplasia of the anterior eye, odontogenesis, and abdominal...

Full description

Bibliographic Details
Main Authors:	Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu
Format:	Article
Language:	English
Published:	Wiley 2023-01-01
Series:	Case Reports in Genetics
Online Access:	http://dx.doi.org/10.1155/2023/4592114

Similar Items

Axenfeld-Rieger syndrome
by: Kenia Verdecia-Jacobo, et al.
Published: (2018-06-01)

Síndrome Axenfeld-Rieger: Presentación de un caso Axenfeld-Rieger syndrome: A case report
by: Daysi Flores Pérez, et al.
Published: (2000-06-01)

Unusual presentation in Axenfeld-Rieger syndrome
by: Rajul S Parikh, et al.
Published: (2011-01-01)

Anomalía de Axenfeld-Rieger: presentación de un caso Anomaly of Axenfeld-Rieger: presentation of a case
by: Yaima Armengol Oramas, et al.
Published: (2012-08-01)

A Case Report of Axenfeld-Rieger Anomaly
by: Prachi Singh, et al.
Published: (2024-03-01)

Double trouble: Microspherophakia with Axenfeld-Rieger anomaly
by: Jyoti Shakrawal, et al.
Published: (2019-01-01)

Glaucoma in Axenfeld–Rieger Syndrome. A Clinical Case
by: Anna V. Starostina, et al.
Published: (2023-10-01)

Axenfeld–Rieger syndrome in the pediatric population: A review
by: Nikhila S Khandwala, et al.
Published: (2023-01-01)

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives
by: Michels K, et al.
Published: (2023-03-01)

A case of Axenfeld–Rieger syndrome with retinal detachment
by: Debdulal Chakraborty, et al.
Published: (2022-01-01)

Dental and craniofacial anomalies associated with Axenfeld–Rieger syndrome
by: Amit Khatri, et al.
Published: (2019-01-01)

Surgical outcomes of Glaucoma associated with Axenfeld-Rieger syndrome
by: Emily M. Zepeda, et al.
Published: (2020-05-01)

Bilateral incomplete schwalbe ring in axenfeld–rieger anomaly
by: Sharmila Rajendrababu, et al.
Published: (2021-01-01)

Posterior embryotoxon and Axenfeld-Rieger syndrome: a case report
by: Bárbara Pereira Neto, et al.
Published: (2025-01-01)

Magnetic resonance imaging findings in Axenfeld–Rieger syndrome
by: Whitehead MT, et al.
Published: (2013-05-01)

Síndrome de Axenfeld-Rieger. Presentación de un caso
by: Armando Rafael Milanés Armengol, et al.
Published: (2020-12-01)

Anomalía de Axenfeld-Rieger: presentación de un caso
by: Yaima Armengol Oramas, et al.

Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome
by: Kuanshu Li, et al.
Published: (2017-01-01)

Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report
by: Ozlem Gürbüz-Köz, et al.
Published: (2007-10-01)

OLOGEN® implant in the management of glaucoma in an unusual case of Axenfeld-Rieger syndrome
by: O K Radhakrishnan, et al.
Published: (2014-01-01)

The clinical and genetic findings in a Chinese family with Axenfeld-Rieger syndrome
by: Lingyan Cheng, et al.
Published: (2022-12-01)

Heterogeneity of Axenfeld–Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients
by: Youjia Zhang, et al.
Published: (2021-10-01)

AXENFELD-RIEGER SYNDROME AND A POST-TRABECULECTOMY PRESENTATION OF ANGLE CLOSURE
by: Steven Kane, MD, et al.
Published: (2015-02-01)

Axenfeld-Rieger anomaly and corneal endothelial dystrophy: a case series Anomalia de Axenfeld-Rieger e distrofia corneana endotelial: uma série de casos
by: Mariana Borges Oliveira, et al.
Published: (2008-12-01)

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation
by: Simone Dressler, et al.
Published: (2010-01-01)

ADAMTS18-related anterior segment dysgenesis mistaken as Axenfeld–Rieger syndrome
by: Arif O Khan
Published: (2023-01-01)

Glaucoma drainage device implantation in a pregnant woman with axenfeld–rieger syndrome
by: Prasanna Venkatesh Ramesh, et al.
Published: (2023-01-01)

A patient with concurrent Axenfeld-Rieger and Stickler syndromes verified by molecular genetics
by: Jason Fan, et al.
Published: (2023-12-01)

Brain White Matter Changes in Axenfeld-Rieger Syndrome: Things to Keep in Mind
by: David Annakie, et al.
Published: (2022-06-01)

Axenfeld-Rieger syndrome: a novel histopathologic finding associated with corneal abnormalities
by: Ting Yu, et al.
Published: (2022-12-01)

A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings
by: Da-Peng Sun, et al.
Published: (2017-06-01)

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome
by: Rui Wang, et al.
Published: (2021-11-01)

First XEN implantation in Axenfeld- Rieger syndrome: A case report and literature review
by: Liat Mendel, et al.
Published: (2022-06-01)

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome
by: Valeria Lo Faro, et al.
Published: (2020-07-01)

Corneal crosslinking in a case with Axenfeld–Rieger syndrome and unilateral pellucid marginal degeneration
by: Mustafa Koc, et al.
Published: (2019-01-01)

Síndrome de Axenfeld-Rieger: Hallazgos clínicos, ecográficos y en ultrabiomicroscopia
by: Juan Enrique Almendárez-Reyna, et al.
Published: (2015-07-01)

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome
by: Bhavin M Shah, et al.
Published: (2014-01-01)

Case report: Congenital mitral and tricuspid valve insufficiency in a patient with Axenfeld-Rieger syndrome
by: Jingwei Feng, et al.
Published: (2022-09-01)

Axenfeld–Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report
by: Angela Pia Cazzolla, et al.
Published: (2022-07-01)

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.
by: Shazia Micheal, et al.
Published: (2016-01-01)