Neurofibromatosis type 1 (NF1; OMIM#162200) is a common neurocutaneous disorder that is characterized by multiple café-au-lait, skinfold freckling, Lisch nodules, and neurofibromas. Mutations in the NF1 gene, which encodes the neurofibromin protein, have been identified as the pathogenic gene of NF1. In this study, we present a clinical and molecular study of a Chinese patient with giant ...

Neurofibromatosis type 1 is characterized by cutaneous neurofibromas and pigmented lesions of the skin called café au lait spots. Although neurofibromatosis type 1 represents a major risk factor for the development of malignancy, especially of nervous system tumors, malignant lymphoma rarely occurs in a patients with neurofibromatosis type 1. Recently, a 77-year-old woman with neurofibromatosis...

Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch n...

Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patie...

Of the many abnormalities that have been reported in association with multiple caf&-au-lait spots, congenital cardiac anomalies are extremely rare. The purpose of this paper is to report three families in which there were children with pulmonary valvular stenosis, who were mentally dull and also had cafe-au-lait spots inherited as an autosomal dominant, as in von Recklinghausen's disease (VRD)....

A 6-year-old boy diagnosed as anisometropic amblyopia, with only café-au-lait spots and a family history of neurofibromatosis, presented with decrease in vision in the both eyes. Dilated fundus examination showed epiretinal membrane in both eyes over the macula. He underwent successful surgical management of the epiretinal membrane.

Dear Editor Isodicentric chromosome 15 [idic(15) or inv dup(15)] syndrome is a rare condition with distinctive clinical features, including developmental delay, hypotonia, epilepsy, and autism or autisticlike behavior [1]. These features can obscure a definitive diagnosis, which can only be obtained by chromosomal analysis. In a review of the types and incidence of marker chromosomes at a unive...

Neurofibromatosis type 1, also known as NF1 or von Recklinghausen's disease, is a common neurocutaneous syndrome that presents with multiple café-au-lait patches, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. The mutations of the gene NF1, encoding the protein neurofibromin, have been identified as the cause of this disease. Here, we report a clinical and molecular stud...

BACKGROUND Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndro...