نتایج جستجو برای: focal dermal hypoplasia

تعداد نتایج: 85196  

2002
U. Seljak

We place limits on the mean density of the universe Ωm and the effective slope of the linear power spectrum around a megaparsec scale neff by comparing the universal mass function to the observed luminosity function. Numerical simulations suggest that the dark matter halo mass function at small scales depends only on Ωm(neff +3) independent of the overall power spectrum normalization. Matching ...

2016
Sadie Smith Kavita Gadhok Dmitri Guvakov

Goltz syndrome, also known as focal dermal hypoplasia, is a rare X-linked dominant multisystem syndrome presenting with cutaneous, skeletal, dental ocular, central nervous system and soft tissue abnormalities. This case report discusses an adult male patient with Goltz syndrome that was noted to have large, papillomatous, hypopharyngeal lesions upon induction of general anesthesia. We highlight...

2010
Addis Tenkir Samuel Teshome

BACKGROUND Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features. CASE PRESENTATION a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial asymmetry, and a low-set protruding ear. Cutaneous changes included hypopigmented atrophic mac...

2011
Rocío F. Lopez-Porras Carlos Arroyo Elena Soto-Vega

Focal dermal hypoplasia (FDH) is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes. We present the case of a 26-year-old female in the 27th pregnancy week and a previous history of miscarriage. After careful physical examination and dermal biopsy, histopathology revealed that t...

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