Objective: This report aimed to add our knowledge on the clinical features, diagnosis and management of ring chromosome 15 syndrome. Methods: Case report and literatures review. Results: A 4.5-year-old girl was admitted to our unit because of short stature. She was 86 cm in height and 9 kg in weight. Physical examination showed sparse temporal hair, right simian crease, fifth finger clinodactyl...

RAS/MAPK pathway germline mutations were described in Rasopathies, a class of rare genetic syndromes combining facial abnormalities, heart defects, short stature, skin and genital abnormalities, and mental retardation. The majority of the mutations identified in the Rasopathies are point mutations which increase RAS/MAPK pathway signaling. Duplications encompassing RAS/MAPK pathway genes (PTPN1...

Several of the anatomic malformations are difficult to diagnose. A group of population has characteristic anatomic changes but even in this group the diagnosis may not be considered, if one or more of the major features are present. The Johanson-Blizzard syndrome has distinctive craniofacial changes that should be easily recognized. It is an autosomal recessive condition characterized by typica...

Ten patients with multiple non-ossifying fibromata are reported. All had associated extraskeletal congenital anomalies such as café-au-lait spots, mental retardation, hypogonadism or cryptorchidism, ocular anomalies or cardiovascular malformations. The radiographic picture and the distribution of the skeletal lesions are characteristic and constant. There are lucent areas in the shaft with a sc...

We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proban...

Background Lynch syndrome (LS) is caused by heterozygous germline mutations in the DNA mismatch repair (MMR) genes and is a highly penetrant autosomal dominant condition. A novel childhood cancer syndrome caused by biallelic germline MMR gene mutations and characterized by brain tumors, leukemias, gastrointestinal (GI) polyposis, GI cancer and café-au-lait spots (CALS) has been described. We re...

Neurofibroma of the parapharyngeal space accounts for less than 2% of all parapharyngeal space neoplasms. A 38-year-old man presented with complaints of snoring and left-sided nasal obstruction. Medical history also revealed numerous huge skin neurofibromas and multiple café au lait spots all over the body. Pharyngeal endoscopic examination disclosed a firm, nonpulsatile submucosal mass, pushin...

INTRODUCTION Neurofibromatosis type 1 (NF1), known as von Recklinghausen's disease, is characterized by presence of café au lait spots, and neurofibromas in the skin or along the course of peripheral nerves. Diagnosis, despite extreme clinical variability, is defined by established diagnostic criteria. Clinical status is frequently complicated by systemic disorders and neoplasias. CASE REPORT...

Sir, Segmental neurofibromatosis (NF) is characterized by multiple neurofibromas or café-au-lait spots (1–4). It is unclear whether segmental NF is arranged within dermatomes or not. This disorder is considered to arise from a post-zygotic NF-1 gene mutation resulting in somatic mosaicism (5). We report here a case of segmental NF, in which multiple neurofibromas showed an unusual clinical pres...