Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

Hyperphosphatasia, Neurologic Deficits and Mental Retardation in Four Siblings

During a systematic screening of the mentally retarded children it was noted that one case had elevated serum alkaline phosphatase. There were no other biochemical abnormalities. The clinical examination showed neurologic deficits but not hepatic or bone anomaly to account for raised alkaline phosphatase level. An examination was then made of other sibs as well as parents and the findings are b...

Phenotypic Variability in Majeed Syndrome.

Case Report: Hallervorden–Spatz Syndrome with Seizures

Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injur...

The histopathology and phenotypic variability in H syndrome

Skin biopsy may be helpful in the diagnosis of H syndrome. A triad of dermal fibrosis, lymphocytic aggregates, and numerous CD68+, CD163+, S100-positive, and CD1a-negative dermal histiocytes is characteristic.

Phenotypic Variability in Ethiopian Castor (Ricinuscommunis L.) Accessions

Objective: Castor (Ricinuscommunis L.) is an industrial oilseed that belongs to the family Euphorbiaceae. Castor is believed to be originated in East Africa probably Ethiopia. Although Ethiopia is known as a primary diversity for castor the knowledge on nature and extent of variation of the indigenous germplasm is limited. The present test was conducted to study the nature and extent o...