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Biomedical subjects

E Baten

Publications and source records attributed to E Baten.

7 recordsLinked to original sources
PubMed2005

The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.

We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss due to stapes fixation and a distinctive facies. A novel nonsense mutation in the NOG gene on chromosome 17q22 was identified in the patients. The variable expression and progressive nature of the syndrome is well illustrated by this family. The role of Noggin as the causative factor of symphalangism is discussed.

Abnormalities, Multiple↗
PubMed2002

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.

Ring chromosome 7 is an unusual chromosome anomaly. Here we describe a patient with ring chromosome 7 and we show that both subtelomeres are still present. The diagnosis agrees with 'ring syndrome'. This report helps to further delineate the clinical manifestations of 'ring syndrome' and to distinguish the phenotypic consequences of the presence of a ring chromosome 7 from the phenotypic consequences of terminal chromosome 7 submicroscopic deletions.

Chromosome Banding↗
PubMed1996

Cohen syndrome: the clinical symptoms and stigmata at a young age.

We present the clinical findings and follow-up data of four female children with Cohen syndrome, two sisters and one pair of dizygotic female twins. The most characteristic findings from birth on were as follows: 1. Low-normal growth parameters at birth. 2. Mild hypotonia and evidence of progressive microcephaly with narrow forehead in the first year of life. 3. Neutropenia was present from the beginning, remained unchanged over the years and is not associated with higher susceptibility to infections. 4. Autistic behavior and severe psychomotor retardation up to the age of 2 years. At that age the ocular anomalies with high-grade myopia and chorioretinal dystrophy were diagnosed. Correction of the myopia resulted in a marked catch-up in psychomotor development. 5. After the age of 6 years facial stigmata became more evident with short philtrum of the upper lip and broad and large upper incisors. 6. Tendency to truncular obesity with rest hypotonia and poor muscle development after the ages of 6 to 8 years. The clinical findings and follow-up data in the present four children with Cohen syndrome illustrate that the diagnosis of Cohen syndrome in infancy is very difficult.

Abnormalities, Multiple↗
PubMed1987

Nephropathic cystinosis: effect of long-term cysteamine therapy.

Three children with nephropathic cystinosis received cysteamine therapy, mostly in the form of phosphocysteamine, for more than six years. The patients were between two and three years of age at the start of the study. The daily dose of cysteamine was 60 mg/kg as cysteamine base. In all three, rapidly progressive renal failure occurred before their 10th birthday. When comparing their evolution with data on the natural history of childhood cystinosis, no improvement was observed in terms of growth and glomerular function. It is concluded that cysteamine therapy did not provide clear benefit to the three patients reported here.

Body Height↗