Fetal MR imaging of Kniest dysplasia.

We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly.

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol.

Beckwith-Wiedemann syndrome (BWS) and isolated hemihyperplasia (IHH) are two well known overgrowth conditions that are associated with cancer predisposition. Multiple surveillance protocols have been proposed to detect the most commonly reported tumor types Wilms tumor and hepatoblastoma. We reviewed the history of our patients who were part of this monitoring protocol.

Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.

Neonatal Marfan syndrome (MFS) is a severe form of classic MFS caused by mutations in a specific region of the fibrillin 1 gene (FBN1). We report a case of an infant with neonatal MFS who presented with flexion contractures in utero and severe skeletal and cardiovascular manifestations at birth. A novel de novo missense mutation in exon 26 of FBN1 was demonstrated.

Enzyme reconstitution/replacement therapy for lysosomal storage diseases.

Purpose Of Review: Over the past 15 years, the lysosomal storage diseases have become paradigms for the specific treatment of monogenic disorders, particularly those affecting children. This review summarizes the phenotypes and recent literature regarding enzyme reconstitution (replacement) therapy and outcomes for such treatable lysosomal storage diseases: Gaucher disease, Fabry disease, Pompe disease and the mucopolysaccharidoses.

Recent Findings: Recent clinical trials have shown that enzyme reconstitution therapy effectively treats many of the manifestations of the lysosomal storage diseases.