06-P037 Dubowitz syndrome maps to chromosome 12 within an interval of 70 genes

06-P037 Dubowitz syndrome maps to chromosome 12 within an interval of 70 genes

Idiopathic Congenital Talipes Equinovarus, or clubfoot, is a common developmental disorder of the foot, affecting at least 2 in every 1000 live births in Scotland. The defect is characterised by a twisting of the foot and loss of calf muscle. Diagnosis is usually made on postnatal examination and treatment; usually a series of foot manipulations, takes place within the first year. Treatment can...

[Dubowitz syndrome].

Se p 20 06 LIMIT THEOREMS FOR COUPLED INTERVAL MAPS

We prove a local limit theorem for Lipschitz continuous observables on a weakly coupled lattice of piecewise expanding interval maps. The core of the paper is a proof that the spectral radii of the Fourier-transfer operators for such a system are strictly less than 1. This extends the approach of [KL06] where the ordinary transfer operator was studied. 1. Results This paper deals with the issue...

Association between nasal polyposis, Dubowitz syndrome and hyper-IgE syndrome.

Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, short stature, microcephaly, distinct facial dysmorphism, and psychomotoric retardation. The hyper-immunoglobulin E (hyper-IgE or Job syndrome) is a primary immunodeficiency characterized by recurrent staphylococcal abscesses, recurrent cyst-forming pneumonia, and an elevated serum IgE le...

A novel acropectoral syndrome maps to chromosome 7q36.

F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Here we report a six generation Turkish family with a related but distinct dominantly inherited acropectoral syndrome. All 22 affected subjects have soft tissue syndactyly of all fingers and a...