Results 131 to 140 of about 434,230 (174)

Focal dermal hypoplasia (Goltz's syndrome)

Ophthalmic Genetics, 1997
A 17-year-old female with Goltz's syndrome was examined because of visual acuity loss in her right eye. Ocular examination revealed microcornea, iris, choroid and optic disc coloboma in the right eye. There were several erthematous and hyperpigmented areas on the body.
Kaan Gündüz, Ilhan Gunalp
exaly   +3 more sources

Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia [PDF]

Congenital Anomalies (discontinued), 2016
Focal dermal hypoplasia is a rare genetic disease characterized 8-year-old female who sought genetic counseling for multiple malformations, aggressive behavior and intellectual disability.
Harry Pachajoa, Sabrina Eichler, Andres Felipe Ramírez-Botero   +2 more
exaly   +2 more sources

Focal Dermal Hypoplasia

JAMA Dermatology, 2023
This case report describes facial atrophic papules with telangiectasias, streaked hypopigmented and hyperpigmented papules on the left side of the trunk and extremities, and soft yellow fat herniations.
Tungchun, Lee, Mao-Ying, Lin, Zhimiao, Lin   +2 more
openaire   +2 more sources

Focal dermal hypoplasia

The Journal of Laryngology & Otology, 1971
Focal dermal hypoplasia syndrome (fdh) is a congenital disorder of mesodermal derivation with some ectodermal participation. The disorder, first described in 1962, is characterized by tenacious defects consisting of thinning of the skin; herniations of adipose tissue; abnormal skin pigmentation and other skeletal, dental, ocular, hair, and nail ...
I W, Mair, C, Hoy
openaire   +4 more sources

Focal Dermal Hypoplasia

2011
Ignatia B Van den Veyver, V Reid Sutton
exaly   +2 more sources

Focal dermal hypoplasia without focal dermal hypoplasia

American Journal of Medical Genetics Part A, 2013
Focal dermal hypoplasia (FDH; Goltz–Gorlin syndrome) is an X‐linked dominant disorder affecting mainly tissues of ectodermal and mesodermal origin. The phenotype is characterized by hypoplastic linear skin lesions, eye malformations, hair and teeth anomalies, and multiple limbs malformations. The disorder is caused by PORCN mutations.
Contreras-Capetillo, Silvina N., Lombardi, Maria Paola, Pinto-Escalante, Doris, Hennekam, Raoul C.   +3 more
openaire   +3 more sources

Focal Dermal Hypoplasia

Pediatric Dermatology, 1962
Three patients having a remarkable congenital decrease in the connective tissues of the skin have been reported under the title of focal dermal hypoplasia. This defect appears as linear areas of thinning of the skin and herniations of adipose tissue in the form of yellowish papules.
R W, GOLTZ, W C, PETERSON, R J, GORLIN, H G, RAVITS   +3 more
openaire   +3 more sources

Focal dermal hypoplasia: updates

Oral Diseases, 2013
Focal dermal hypoplasia (FDH), or Goltz–Gorlin syndrome, is a rare syndrome and may result in multisystem disorders. Several reviews of FDH have been published. However, the last comprehensive review of this disorder appeared more than 20 years ago.
L, Wang, X, Jin, X, Zhao, D, Liu, T, Hu, W, Li, L, Jiang, H, Dan, X, Zeng, Q, Chen   +9 more
openaire   +2 more sources

A case of focal dermal hypoplasia

Clinical and Experimental Dermatology, 1982
Summary Focal dermal hypoplasia (FDH) is a rare but well recognized syndrome characterized by mesodermal and ectodermal dysplasias. It has been extensively reviewed by Goltz et al. (1970), and over seventy cases have now been reported in the literature.
F M, Prentice, R M, Mackie
openaire   +2 more sources

Omphalocele and Focal Dermal Hypoplasia

European Journal of Pediatric Surgery, 1981
A case of focal dermal hypoplasia associated with a giant omphalocele in a neonate is presented. The omphalocele was treated successfully by staged repair with Teflon mesh. The Teflon mesh was well incorporated into the fascial margins of the rectus muscle and the sac, and provided a stable abdominal wall for a long period of time.
N, Samejima, S, Ito, S, Nakajima, K, Ikeda   +3 more
openaire   +2 more sources