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Biomedical subjects

L Standaert

Publications and source records attributed to L Standaert.

At least 19 recordsLinked to original sources
PubMed2001

The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study.

OBJECTIVE: A new large family with the BOR syndrome is reported with special reference to the presence of a widened vestibular aqueduct and a progressive sensorineural component in the mixed hearing loss. A review of the BOR literature of 184 patients is given. SETTING: University Hospitals. RESULTS: A BOR family with 17 affected members was studied. Fourteen of those 17 were still alive and 12 of those cooperated in this clinical study. Detailed radiological studies showed in three out of 12 affected family members a widened vestibular aqueduct and progressive sensorineural hearing loss. This raises the question whether there is a true correlation or whether those are coincidental. CONCLUSION: In our family with the Branchio-Oto-Renal syndrome, a widened vestibular aqueduct and progressive hearing loss is found in a few affected family members. Imaging of the temporal bones and long-term audiometric follow-up could help to reveal whether the widened vestibular aqueduct is the cause for the progressive hearing loss.

Adolescent↗
PubMed1998

Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia. The present observations further suggest that these syndromes are the variable expression of a single autosomal recessive disorder.

Abnormalities, Multiple↗
PubMed1998

Otological manifestations of CHARGE association.

The combined findings of abnormalities of the incus and stapes, absence of the oval window, absence of the stapedius muscle (with absent pyramidal eminence and tympanic sinus in most cases), and abnormalities of different parts of the inner ear (dysplastic cochlea, hypoplastic or dysplastic vestibule, and absent semicircular canals) are characteristic of the CHARGE association. Computed tomography and magnetic resonance imaging using 1-mm-thick contiguous slices proved useful in demonstrating the broad spectrum of temporal bone abnormalities in patients with the CHARGE association.

Adolescent↗
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↗
PubMed1989

De novo Robertsonian D/D type translocations: the Leuven experience.

In this paper we report a de novo 13/14 Robertsonian type translocation with apparent loss of band 14q11 in a mentally retarded, blind 24-year-old male. The findings in 10 other patients with a de novo Robertsonian D/D type translocation diagnosed in this center are reviewed.

Adult↗
PubMed1983

Hemorrhagic pleural effusion and mediastinal mass: presenting symptoms in a child with pseudocyst of the pancreas.

A girl was referred to our hospital because of a right-sided recurrent hemorrhagic pleural effusion associated with a mediastinal mass. It was later found that the findings were due to a pancreatic pseudocyst with internal fistulization through a necrotic opening in the left hemi-diaphragm, and with mediastinal and right-sided pleural extension. The object of this report is to remind clinicians that a pleural effusion and a mediastinal mass may be the presentation of a pseudocyst of the pancreas, and to point out the important of endoscopic retrograde cholangiopancreatography--even for children.

Child, Preschool↗