نتایج جستجو برای: focal dermal hypoplasia
تعداد نتایج: 85196 فیلتر نتایج به سال:
We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of inheritance. Despite the severe hand/foot deformit...
BACKGROUND The diagnostic criteria of Proteus syndrome include various lesions of localized overgrowth such as digital gigantism, hemihyperplasia with unilateral macrocephaly, epidermal nevus, and mesodermal hamartomas such as lipoma, lymphangioma, hemangioma, or fibroma. Hyperplasia of the plantar dermal tissue may result in a characteristic cerebriform appearance. However, hypoplastic lesions...
This paper focuses on nonparametric efficiency analysis based on robust estimation of partial frontiers in a complete multivariate setup (multiple inputs and multiple outputs). It introduces a-quantile efficiency scores. A nonparametric estimator is proposed achieving strong consistency and asymptotic normality. Then if a increases to one as a function of the sample size we recover the properti...
BACKGROUND The potential association of dermal melanocytosis with lysosomal storage disease in infancy is an uncommonly known and poorly understood entity. OBSERVATIONS We describe 2 infants with extensive dermal melanocytosis in association with GM1 gangliosidosis type 1 and Hurler syndrome, respectively. A literature analysis revealed 37 additional cases. Clinically, dermal melanocytosis as...
Traditional estimators for nonparametric frontier models (DEA, FDH) are very sensitive to extreme values/outliers. Recently, Aragon, Daouia, and Thomas-Agnan (2005) proposed a nonparametric α-frontier model and estimator based on a suitably defined conditional quantile which is more robust to extreme values/outliers. Their estimator is based on a nonsmooth empirical conditional distribution. In...
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