Biomedical subjects
Publications and source records attributed to S Balci.
A case of Meckel Gruber syndrome is presented, diagnosed prenatally from the medical history of the mother which revealed a previous malformed stillborn with anencephaly, meningomyelocele, polydactyly and ambiguous genitalia. This was the first prenatally diagnosed case ever reported in Turkey. The clinical, computed tomography and postmortem findings and the related literature are reviewed.
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A new case of Aase-Smith syndrome has been reported with additional findings, including microcephaly, axial rotation of the kidneys, preaxial polydactyly and leukopenia. The patient had almost complete clinical remission with corticosteroid treatment. The findings in this case suggest that it is very difficult to differentiate Aase-Smith syndrome from Blackfan-Diamond and Fanconi's anemias as well as from those cases reported by Murphy and Lubin, and Jones and Thompson.
Classical phenylketonuria (PKU) and Goldenhar's syndrome were diagnosed in a six-month-old male infant who was referred to Hacettepe Children's Hospital for evaluation of developmental delay. There had been epibulbar dermoids in his left eye, strabismus, bilateral multiple preauricular appendices, malar hypoplasia, micrognathia, hemifacial microsoma and high palatal vault. In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted. Ferric chloride test on his urine sample was positive, and the plasma phenylalanine level was high (34 mg/dl). Based on these clinical and biochemical findings, the diagnoses of phenylketonuria and Goldenhar's syndrome were made. To our knowledge, this is the first case with PKU and Goldenhar's syndrome.
Sirenomelia is a rare fatal condition characterized by fusion of the lower limbs. Its etiology is unknown. It is believed that there is a connection between sirenomelia and maternal diabetes but this association has not been firmly established. Here a case of a sirenomeliform infant born to a diabetic mother is reported.
We present a seven-year-old boy with cryptogenic cirrhosis, membranous glomerulonephritis, mild mental retardation and mildly dysmorphic changes. Chromosomal analysis showed diploid, triploid and tetraploid mosaicism which was detected both by cytogenetic study and flow cytometric analysis of nuclear DNA content. Complete tetraploidy and triploidy, usually lethal, are rare chromosomal disorders. This is the first reported case of diploid-triploid-tetraploid mosaicism with cryptogenic cirrhosis and membranous glomerulonephritis.
Carpenter's syndrome (acrocephalopolysyndactyly type II) is an autosomal recessive syndrome characterized by peculiar facies, synbrachydactyly on fingers and preaxial polysyndactyly on feet. To our knowledge there are about 40 reported cases of Carpenter's syndrome in the literature. Congenital heart disease is an uncommon entity in Carpenter's syndrome. In the case we present, transposition of great arteries, subpulmonic ventricular septal defect (VSD) and secundum atrial septal defect (ASD) were diagnosed with echocardiographic examination. Therefore, a cardiologic examination should be done in every newly diagnosed case of Carpenter's syndrome for possible heart defect. Early fatality is seen in Carpenter's syndrome cases associated with congenital heart disease. This is particularly important from the genetic counselling point of view.