Results 81 to 90 of about 434,230 (174)

Dermal and Ophthalmological Manifestations of Goltz Syndrome in a Four-month-old Female Child: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Goltz syndrome, also known as Focal Dermal Hypoplasia (FDH), is a rare X-linked dominant genodermatosis characterised by multisystem involvement affecting the skin, skeletal system, eyes, and craniofacial structures.
Ritika Singh, Prerna Rohilla, Kapil Bhalla   +2 more
doaj   +1 more source

Congenital symblephara, progressive corneal pannus, and skin defects

, 2009
The authors describe a girl with congenital symblephara, progressive corneal pannus, and skin defects caused by focal dermal hypoplasia. Her corneal neovascularization progressed to full pannus and blindness.
Przygodzki R., Butrus S., Al Haddad C., Epps R., Miller M., Maybodi M.   +5 more
core   +2 more sources

Você conhece esta síndrome? Do you know this syndrome?

Anais Brasileiros de Dermatologia, 2011
A síndrome de Goltz é uma doença genética rara, de herança dominante ligada ao X, mais comum em doentes do sexo feminino e, na maioria das vezes, resulta no aborto dos fetos do sexo masculino. Tem um amplo espectro de manifestações clínicas possíveis.
Izelda Maria Carvalho Costa, Isabel Irene Ramos Leal, Lilian Mendes Ferreira Urbano   +2 more
doaj   +1 more source

Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia. [PDF]

Cureus, 2023
Bin Rubaian NF, Alghamdi N, Alhaddad B, AlJanobi H, Alharbi AS.   +4 more
europepmc   +1 more source

Focal dermal hypoplasia: a case report and review of literature

, 2003
FrenchA 14 year old girl was seen in the clinic with a huge vulvar wart, and warts on both tonsils. She also had poikiloderma. She had bony abnormalities, which included lobster claw abnormality of the right foot, a right cervical rib, and the right ...
Ogunbiyi, J. O., Ogunbiyi, A. O., Ogunleye, O., Adewole, I. O., Baiyeroju-Agbeja, A., Ogunseinde, O. O.   +5 more
core  

Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report Showing a Wide Variety of Systemic and Oral Manifestations. [PDF]

Ann Dermatol, 2022
Nobre ÁVV, Taba M, Silva AR, de Souza SLS, Motta ACF.   +4 more
europepmc   +1 more source

Síndrome de Goltz [PDF]

, 2019
Focal dermal hypoplasia, also known as Goltz syndrome, is a rare dominant genodermatosis linked to the X chromosome, which affects ectodermal and mesodermal tissues. It is characterized dermatologically by striae, congenital dermal atrophy with lineal or
Alba, Catherine, Barrera, Antonio, Bohórquez, Ivonne, Novoa, Mónica   +3 more
core  

Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly

, 2013
Focal dermal hypoplasia (FDH; Goltz–Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system and eyes. It is caused by loss-of-function mutations in the PORCN gene.
Errico, Stefania, Karl‐Heinz Grzeschik, Savino, G., Elisa Guareschi, Rosato, Simonetta, Guareschi, Elisa, Pavanello, M., Simonte, G., Garavelli, Livia, Anita Wischmeijer, Rudolf Happle, Albertini, Enrico, Gustavo Savino, Greco, Chiara, Enrico Albertini, Giuseppe Albertini, Superti-Furga, A., Caterina Longo, Wischmeijer, Anita, Graziella Simonte, Wischmeijer, A., Gelmini, Chiara, Sheila Unger, Unger, Sheila, Albertini, G., Guareschi, E., Savino, Gustavo, Stefania Errico, Simonte, Graziella, Longo, C., Errico, S., Grzeschik, K.H., LONGO, Caterina, Grzeschik, Karl Heinz, Superti Furga, Andrea, Greco, C., Chiara Gelmini, Garavelli, L., Happle, R., Gelmini, C., Marco Pavanello, Pavanello, Marco, Albertini, E., Rosato, S., Simonetta Rosato, Albertini, Giuseppe, Livia Garavelli, Andrea Superti‐Furga, Unger, S., Chiara Greco, Happle, Rudolf, Superti-Furga, Andrea, Grzeschik, Karl-Heinz   +52 more
core   +1 more source

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

, 2009
Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutations in
Dietmar Müller, M Mar García González, Meinecke, P, Eva Rossier, Dagmar Wieczorek, Gillessen-Kaesbach, G, Rossier, E, Harmsen, M B, Martin Zenker, Kutsche, K, Christiane Spaich, Rauch, A, Zenker, M, Eva Seemanova, Wieczorek, D, Anita Rauch, Azzarello-Burri, S, Steiner, B, May-Britt Harmsen, Gabriele Gillessen-Kaesbach, Müller, D, Silvia Azzarello-Burri, Spaich, C, Kerstin Kutsche, Seemanova, E, Bernhard Steiner, García Gonzalez, M M, Peter Meinecke   +27 more
core   +1 more source

A Case of Familial Focal Dermal Hypoplasia: A Report of 3 Cases in Consecutive Generations

, 2018
Focal dermal hypoplasia (FDH), or Goltz syndrome, is a rare multisystem disorder affecting mesodermal and ectodermal structures, with the skin, eyes, teeth, and musculoskeletal systems most commonly affected. FDH results from mutations in the PORCN gene.
Nichols, Anna, Cárdenas Guevara, Mayerlis, Nagrani, Nicole, Reyes Muñoz, Rocio, Castillo, David, Castillo, David Ernesto, Morales, Samuel D   +6 more
core   +1 more source