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Biomedical subjects

R Kordić

Publications and source records attributed to R Kordić.

6 recordsLinked to original sources
PubMed1998

[The Johanson-Blizzard syndrome].

A 17 year and 10 month old boy with Johanson-Blizzard syndrome is presented as a case report for the first time. Diagnosis has been established on the basis of craniofacial abnormalities: microcephalia, parietal skin and bone defects, sparse hair with frontal up sweep, alae nasi hypoplasia, irregular dentition and nasolacrimal fistula, with mental insufficiency, partial exocrine pancreatic insufficiency and low birth-weight and length, hypotonia and failure to thrive in infancy. Congenital cataract and hiatus sacralis apertus are additional signs that have never been described in the literature concerning Johanson-Blizzard syndrome.

Adolescent↗
PubMed1997

[The effect of donor age on corneal graft survival].

The effect of donor age on corneal graft survival was evaluated. Two groups of patients were followed up 18 months after keratoplasty. In both groups one half of the patients (53.1%) were with high-risk keratoplasties. For transplantations were used moist chamber preserved grafts. Donor-recipient histocompatibility matching was not done. Blood group antigens (ABO), donor and recipient sex were distributed randomly. During the follow-up period all patients were examined by slit lamp biomicroscopy. Group A: donor age < or = 60, after the 18 month follow-up period 82.7% of grafts were found clear. Group B: donor age > or = 60, after the 18-month follow-up period 80% of grafts were found clear. chi 2 = 0.08. There was no statistically significant difference between group A and group B.

Adult↗
PubMed1996

[The Cohen syndrome].

A girl with Cohen syndrome is presented. The diagnosis has been established on the basis of the characteristic face appearance with hypoplastic maxilla and mandible, open mouth, prominent maxillary central incisors, as well as characteristic appearance of extremities (narrow hands and feet), childhood obesity, hypotonia, and mental insufficiency. The girls also has the so-called "mottled retina". The attempts of weight reduction have been unsuccessful so far.

Abnormalities, Multiple↗
PubMedDate not supplied

[The Dubowitz syndrome].

A 27-month-old girl with Dubowitz syndrome, a rare autosomal recessive disorder, is presented. The diagnosis was established by a series of symptoms typical for this syndrome: intrauterine and postnatal growth retardation, microcephaly, recurrent diarrhea and respiratory infections, characteristic craniofacial anomalies such as epicanthus, nasal dysplasia with broad nasal bridge in line with forehead, thin hair, micrognathia, large mouth, dysplastic ears, brachyclinodactyly, pectus excavatum and pilonidal sinus. Hyperactivity in behaviour was obvious, and she had a very high pitched voice. Sacral cleft and wide opened frontal fontanelle found in our patient could be new signs, not yet seen in this syndrome. Necessity of regular follow-up of these patients is stressed due to the rather high incidence of malignant diseases and diseases of the hematopoetic system, respectively.

Abnormalities, Multiple↗
PubMedDate not supplied

[Cockayne syndrome].

A 9-year-old girl with characteristic clinical signs of Cockayne's syndrome type I (cachectic dwarfism, "senile" like appearance, mental retardation, progressive neurologic and retinal degeneration) is presented. Computerized tomography and magnetic resonance imaging of the brain have shown a large malformation in cerebral posterior fossa. The case also has unusual aspects: pronounced congenital hypertrichosis and dark pigmented teeth. To our knowledge, these signs have never been described in the literature in connection with this rare syndrome.

Child↗