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)....

This paper describes the consonant inventory of the endangered southern African language N|uu. Our novel approach to segment classification accounts for all 73 N|uu consonants with just four phonetic dimensions (place, manner, phonation, airstream) and does away with the phonetically empty category CLICK ACCOMPANIMENT. We provide ultrasound data showing that the posterior constrictions in click...

The significance of the cafe-au-lait spot in the diagnosis of certain disorders of childhood is still not as widely appreciated as it should be, partly due to lack of information as to the normal incidence of such pigmentation, and partly to confusion over its relation to other forms of congenital pigmentation. The varieties of congenital melanin pigmentation of the skin consist of a number of ...

The significance of the cafe-au-lait spot in the diagnosis of certain disorders of childhood is still not as widely appreciated as it should be, partly due to lack of information as to the normal incidence of such pigmentation, and partly to confusion over its relation to other forms of congenital pigmentation. The varieties of congenital melanin pigmentation of the skin consist of a number of ...

Segmental neurofibromatosis type I (SNF-I) is a rare variant of neurofibromatosis (NF). It is classified as NF type V and defined as cafe'-au-lait macules and/or neurofibromas in a single ,unilateral segment of the body .We report two cases with SNF-I with striking similar manifestations.

discussion in this patient we preferred following up. afterwards, total surgical lesion resection can be performed. after a long-term follow-up, the area may receive an implant. case presentation a 40-year-old female patient presented an opaque lesion at the left mandibular side of face, in a cone-beam computerized tomography (cbct) view, during the implant placement evaluations. the patient ha...

264 Ann Dermatol Received November 22, 2012, Revised April 9, 2013, Accepted for publication April 24, 2013 Corresponding author: Sung Ku Ahn, Department of Dermatology, Yonsei University Wonju College of Medicine, 20 Ilsan-ro, Wonju 220-701, Korea. Tel: 82-33-741-0621, Fax: 82-33-748-2650, E-mail: [email protected] This is an Open Access article distributed under the terms of the Creative Com...

A child with Noonan syndrome and multiple cafe au lait spots, compatible in size and number with von Recklinghausen's neurofibromatosis, is presented. These features may represent a distinct genetic entity rather than the coincidence of two diseases.

SUMMARY Neurofibromatosis, an autosomal dominant disorder is characterized by showan cell tumor affecting any Part of the body containing such cell, giving rise to appropriate fealture according to the organ involved but the most characteristic clinical aspect of the disease is pripheral or cranial nerve tumors usually associated with cafe au lait spots more than 6 in number and larger than 1....

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...