Results 31 to 40 of about 434,230 (174)

Goltz syndrome in male: A rare case of focal dermal hypoplasia

Indian Journal of Ophthalmology. Case Reports, 2023
Goltz syndrome or focal dermal hypoplasia is a rare meso-ectodermal, X-linked dominant genetic disorder with female preponderance. Though the involvement of multiple systems is present, the hallmark of this syndrome is typical cutaneous features.
Neha Kumari, Gyan Bhaskar, Bibhuti P Sinha, Kumar Anmol   +3 more
doaj   +1 more source

Focal dermal hypoplasia (Goltz syndrome) [PDF]

Boletín Médico del Hospital Infantil de México (English Edition), 2023
Focal dermal hypoplasia or Goltz syndrome is a rare X-linked dominant inherited genodermatosis, affecting both the ectodermal and mesodermal tissue. Clinical manifestations include skin abnormalities, defects in eyes, teeth, nails, mouth, soft tissues and skeleton.
Guadalupe X, Corona-Guerra, Marisol, Ochoa-Apreza   +1 more
openaire   +2 more sources

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum. [PDF]

Clin Genet
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Miranda-Alcaraz L, Carbonera S, Mora-Gómez M, Gallego-Zazo N, Guillén I, Padilla E, Visani G, Asaro A, Vásquez-Amell V, Cazalla M, Rodríguez-Canó M, Silván C, Arias P, Jiménez-Estrada JA, Valle T, Cruz-Utrilla A, Escribano-Subías P, Parra NO, Del Cerro Marín MJ, Nevado J, Spanish PAH Consortium, Lapunzina P, Sirchia F, Tenorio-Castano J.   +23 more
europepmc   +2 more sources

Síndrome de Goltz: relato de dois casos Goltz syndrome: report of two cases

Anais Brasileiros de Dermatologia, 2003
A hipoplasia dérmica focal é genodermatose rara, de caráter dominante, ligada ao cromossoma X. Os autores apresentam dois casos dessa síndrome, destacando suas principais características dermatológicas e a importância da avaliação multidisciplinar em seu
Ilner de Souza-e-Souza, Paula Cristina Assef dos Santos Cunha   +1 more
doaj   +1 more source

Goltz syndrome: A newborn with ectrodactyly and skin lesions

Indian Journal of Dermatology, 2015
Goltz syndrome or Focal Dermal Hypoplasia is a rare multisystem disorder, involving all the three germ cell layers. The disease is thought to be inherited in X-linked dominant fashion with heterogeneous mutations of the PORCN gene at Xp11.23 locus ...
Shatanik Sarkar, Chaitali Patra, Amit Das, Sutirtha Roy   +3 more
doaj   +1 more source

Enamel defects and Lyonization in focal dermal hypoplasia

, 2004
We report a pattern of enamel hypoplasia in focal dermal hypoplasia similar to that found in females with X-linked amelogenesis imperfecta. Three cases of focal dermal hypoplasia are described, with specific focus on the oral and dental features.
Aldred, M.J., Cameron, A.C., Balmer, R.C., Ades, L.   +3 more
core   +1 more source

Porcn is essential for growth and invagination of the mammalian optic cup

Frontiers in Cell and Developmental Biology, 2022
Microphthalmia, anophthalmia, and coloboma (MAC) are congenital ocular malformations causing 25% of childhood blindness. The X-linked disorder Focal Dermal Hypoplasia (FDH) is frequently associated with MAC and results from mutations in Porcn, a membrane
Sabine Fuhrmann, Sabine Fuhrmann, Sara Ramirez, Sara Ramirez, Mirna Mina Abouda, Clorissa D. Campbell   +5 more
doaj   +1 more source

Focal Dermal Hypoplasia [PDF]

Journal of Dermatology & Cosmetology, 2017
Focal dermal hyperplasia FDH or mesoectodermal hyperplasia is an infrequent X linked dominant patterned inheritable genodermatoses It compromises skin bones eyes soft tissues and shows different severity degrees We report the case of a year old female patient with typical skin lesions of FDH and clinical and histologic findings according to this ...
openaire   +1 more source

Unilateral Tonsillar Hypertrophy in a 4-Year-Old Girl with Focal Dermal Hypoplasia (Goltz Syndrome)

Philippine Journal of Otolaryngology Head and Neck Surgery, 2018
Objective: To report a case of unilateral tonsillar hypertrophy resulting in severe Obstructive Sleep Apnea in a 4-year-old girl with focal dermal hypoplasia (FDH, Goltz or Goltz-Gorlin) Syndrome. Methods: Design:           Case Report Setting:  
John Emmanuel L. Ong, Emmanuel Tadeus S. Cruz, Clydine Maria Antonette G. Barrientos   +2 more
doaj   +1 more source

Evidence for functional convergence between LZTS2 and DYRK1A during craniofacial development

Developmental Dynamics, EarlyView.
Abstract Background Precise control of DYRK1A dosage is essential for embryonic development, including craniofacial morphogenesis. While LZTS2 is among the most consistently identified DYRK1A‐interacting proteins, its roles in embryonic development remain incompletely understood, and its potential contribution to craniofacial development has not been ...
Nicole Cheng, Santiago Lima, Larisa Litovchick, Amanda J. G. Dickinson   +3 more
wiley   +1 more source