منابع مشابه
Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II
We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic...
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This presentation focused on a hyperactive child admitted to the emergency department because of ataxia and imbalance. It was later discovered that the child had been abused by his mother. In cases where there is conflict between the clinical findings, the patient and the family's history in a clinical state which cannot be explained satisfactorily by the medical staff, the need for taking the ...
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A child with X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OL-EDA-ID) was recently reported. We report the clinical features of a second boy with this novel syndrome and his mother, who presented with signs of incontinentia pigmenti (IP). The child had mild osteopetrosis without neurosensory complications, unilateral lymphedema of the left leg, and c...
متن کاملChromosomal Translocation in a Mongoloid Male Child and His Normal Mother.
The presence of 47 chromosomes in mongoloids, due to the trisomy of a small acrocentric chromosome in the 21-22 group (Denver system) was demonstrated by Lejeune et al. 1 1 in 1959, and since that time has been confirmed by numerous authors (Beçak 2 ) . The production of this trisomy is explained by a defect in the process by which the homologous chromosomes or sister chromatids should dislocat...
متن کاملMECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.
Rett syndrome is a severe neurodevelopmental disorder affecting principally females and characterized by a normal postnatal development followed by stagnation and regression of acquired skills. We report a 4-year-old boy with a Rett syndrome phenotype and his unaffected mother both carrying a 44 bp truncating deletion mutation (c.1158del44 or p.388X) in the MECP2 gene. The presence of a skewed ...
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ژورنال
عنوان ژورنال: Journal of Hospital Medicine
سال: 2011
ISSN: 1553-5592
DOI: 10.1002/jhm.852