Results 91 to 100 of about 434,230 (174)

A Novel <b><i>PORCN </i></b>Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report

, 2018
Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues.
Lu Liu, Halil G. Karabulut, McGrath, John, Durmaz, CEREN DAMLA, John McGrath, Ceren D. Durmaz, Liu, Lu, KARABULUT, HALİL GÜRHAN   +7 more
core   +1 more source

Multiple apocrine hidrocystomas of the eyelids

, 1997
We report a patient with multiple apocrine hidrocystoma (cystadenoma) which was characterized by bilateral distribution of the lesions on the eyelids.
A. Coggi, R. Gianotti, E. Alessi
core   +1 more source

Goltz syndrome: Primary diagnosis by an ophthalmologist

Indian Journal of Ophthalmology, 2019
Ekta Rishi, Preet Sodhi, Meenakshi Swaminathan, Pukhraj Rishi   +3 more
doaj   +1 more source

Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up

BMC Pediatrics
Goltz syndrome, also known as focal dermal hypoplasia, is an X-linked dominant genetic disorder caused by mutations in the PORCN gene, mainly characterized by developmental impairments affecting the skin, hair, bones, teeth, and eyes.
Jinghui Zhang, Nana Qiao, Xiaochun Li
doaj   +1 more source

Proximal femoral focal deficiency : a case report [PDF]

, 2008
Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Ellul, Marthese, Grixti, Charles J., Chircop, Marcelle, Grech, Victor E.   +3 more
core  

A Rare Case of Mainly Unilateral Focal Dermal Hypoplasia (Goltz Syndrome) in an Adult Male: A Case Report and Review of the Literature. [PDF]

J Med Cases, 2020
Lyons D, Rushton C, Sidhu S.
europepmc   +1 more source

Goltz syndrome with congenital glaucoma: A new ophthalmologic manifestation

Indian Journal of Ophthalmology. Case Reports, 2021
Gazella B Warjri, Vatsalya Venkatraman, Ramanjit Sihota, Viney Gupta, Shikha Gupta   +4 more
doaj   +1 more source

Focal dermal hypoplasia [PDF]

, 2020
openaire   +3 more sources

Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients

Acta Dermato-Venereologica, 2017
Maella Severino-Freire, Aude Maza, Maria Paola Lombardi, Emilie Tournier, Nicolas Chassaing, Juliette Mazereeuw-Hautier   +5 more
doaj   +1 more source

Extensive blaschkoid macules and patches since birth

JAAD Case Reports, 2023
Suzanne Xu, BS, Katharine T. Ellis, BS, Simon F. Roy, MD, Margaret S. Johnston, MD, Amanda E. Zubek, MD, PhD   +4 more
doaj   +1 more source