New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Mutations in either the EXT1 or EXT2 genes lead to Multiple Osteochondromas (MO), an autosomal dominantly inherited disorder. This is a report on clinical findings and results of molecular analyses of both genes in 23 German patients affected by MO. Mutation screening was performed by using denaturing high performance liquid chromatography (dHPLC) and automated sequencing.

Different phenotypes including gynecological cancer in three female patients with Peutz-Jeghers syndrome and mutations in the STK11 gene.

Background: Peutz-Jeghers syndrome (PJS), a rare hereditary disorder, is characterized by the occurrence of gastrointestinal hamartomatous polyps associated with mucocutaneous pigmentation. Patients are at an increased cancer risk not only for gastrointestinal but also for extraintestinal neoplasms.

Patients And Results: We report on the clinical and molecular findings in 3 young female patients with PJS; 2 of them suffered from severe gynecological cancer.

[Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis].

Background: Clarifying the cause of global developmental and speech delay is of considerable significance in pediatrics. We present the clinical phenotype of the 22q13 deletion syndrome - also known as Phelan-McDermid syndrome - and show the diagnostic options.

Patient: We report on a female patient with muscular hypotonia, tall stature, minor facial dysmorphism, retarded motor and mental development, and severe speech delay.

[Neurofibromatosis type 1 and associated clinical abnormalities in 27 children].

Neurofibromatosis type 1 is the most common of the phakomatoses and the clinical follow-up is an interdisciplinary challenge. The data of 27 patients with NF1 were systematically reviewed and compared to data from the literature. All of our patients had clinical signs of NF1.