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S Balci

Publications and source records attributed to S Balci.

At least 91 records · Page 5Linked to original sources
PubMedDate not supplied

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.

Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and short stature. Previous reports indicated that 4-25% of RTS patients have a submicroscopic 16p13.3 deletion of the CBP gene. Using FISH and cosmid probes RT100, RT191 and RT203 we studied 45 RTS patients from Germany, the Czech Republic, Austria and Turkey and found four deletions (8.9%, pooled data including other studies: 11%). All deletions were interstitial; three spanned the CBP gene (RT100-RT203) and one was smaller (RT100 only). Previous studies reported no phenotype-genotype correlation between RTS patients with or without a deletion. Our findings suggest a more severe phenotype. The mean age at presentation was 0.96 years in patients with a deletion as against 11.12 years in those without. Patients A and B with a deletion died in infancy which is rare in RTS and was not observed among the other patients. Patients A and D had accessory spleens, Patient A with hypoplastic left heart, abnormal pulmonary lobulation and renal agenesis. This is the second report of hypoplastic left heart and the first report of polysplenia with RTS. The signs suggest a developmental field defect (disturbance of laterality) either as a newly recognised pattern of RTS, or alternatively a novel contiguous gene syndrome.

Adolescent↗
PubMedDate not supplied

Prenatal diagnosis of diastematomyelia in a 15-week-old fetus.

OBJECTIVE: A case of prenatal diagnosis of diastematomyelia is presented. METHODS: A case of fetal diastematomyelia, diagnosed by prenatal sonography, demonstrated the typical sonographic features of this condition. In this case it was detected at 15 weeks of gestation, and presented with a midline echogenic focus in the posterior region of the thoracolumbar spine. RESULTS: The pregnancy was terminated by induction of labor. The fetus was female and there was a 1-cm long endurated hyperemic lesion at the back of the fetus. We confirmed the diagnosis of diastematomyelia after termination of pregnancy by plain chest and abdominal X-ray and also MRI scanning. CONCLUSION: Isolated diastematomyelia is a rare form of spinal dysraphism characterized by a sagittal cleft in the spinal cord, conus medullaris and/or filum terminale with splaying of the posterior vertebral elements. Prenatal diagnosis of this anomaly is possible in the early mid-trimester by sonography, thus allowing for early surgical intervention and a favorable prognosis.

Abortion, Induced↗
PubMedDate not supplied

Bronchiectasis due to ciliary aplasia in Turner's syndrome.

A seven-year-old girl with Turner's syndrome, who suffered from recurrent respiratory system infections since birth, was investigated to determine the etiology of bronchiectasis. Electron microscopy of recurrent nasal biopsy specimens revealed ciliary aplasia. Ciliary aplasia in Turner's syndrome, has not previously been reported.

Bronchiectasis↗
PubMedDate not supplied

Two female siblings from Turkey with Langer mesomelic dysplasia (homozygous Leri-Weill dyschondrosteosis syndrome).

Leri-Weill dyschondrosteosis is an autosomal dominant syndrome of which the characteristic features are mild-to-moderate shortness of stature and Madelung deformity of the wrist. The homozygous state of the gene for Leri-Weill syndrome causes Langer mesomelic dysplasia which is characterized mainly by shortening of the long tubular bones, more markedly in the middle than in the proximal and distal segment of the extremities. In this paper, we present two sisters with Langer mesomelic dysplasia (12 years and 6 months of age, respectively), from consanguineous parents. The mother of our cases had Madelung deformity. Father, mother and grandmother also had a slight deformity of both forearms. Unfortunately, despite the well documented case of the older sister with Langer mesomelic type dysplasia, the first and second trimester ultrasonographies of the younger sister were performed by inexperienced staff of a local urban hospital and the prenatal diagnosis of this case was not made. In this paper, we also discuss the prenatal diagnosis of Langer type mesomelic dysplasia.

Child↗
PubMedDate not supplied

A Turkish family with Greig cephalopolysyndactyly syndrome.

Greig cephalopolysyndactyly syndrome is a very rare autosomal dominant disease characterized by postaxial polysyndactyly of hands, preaxial polysyndactyly of feet and peculiar facial features, and has been shown to be due to mutations in the GLI3 gene. We present clinical findings of a 39-year-old man and his nine-day-old daughter with Greig cephalopolysyndactyly who showed variable expression with regard to syndactyly of fingers and toes. The role of obstetric ultrasonography in the prenatal diagnosis of the syndrome is also discussed.

Adult↗
PubMedDate not supplied

A case with some clinical findings overlapping to Rubinstein-Taybi, Rubinstein-Taybi-like syndrome or multiple pterygium syndrome: coincidental findings or a new entity?

We report a case with broad, deviated thumb and big, duplicated, deviated toes resembling Rubinstein-Taybi syndrome. But the patient did not have severe mental retardation as in Rubinstein-Taybi syndrome and had no microdeletions on chromosome 16 by FISH-based assay. This patient had mild webbing as seen in multiple pterygium syndrome, but broad-deviated thumb has not been reported in this syndrome. We discuss whether these are coincidental or overlapping findings or whether this is a possible new clinical entity.

Child↗
PubMedDate not supplied

Thoracoschisis associated with diaphragmatic hernia in a 31-week-old stillbirth.

Thoracoschisis is a very rare congenital anomaly and is frequently found with other congenital defects the of limbs and the abdominal wall as a part of limb-body wall complex (LBWC). Early vascular disruption, amnion rupture and intrinsic embryonic maldevelopment are related to the pathogenesis of this complex. We present a case of thoracoschisis with ipsilateral diaphragmatic hernia. This case had none of the associated anomalies which are seen in LBWC. By ultrasonography performed at 31 weeks' gestation the fetus was misdiagnosed as gastroschisis. In this report we discuss the pathogenetic mechanism of LBWC and our case.

Adult↗
PubMedDate not supplied

Bilateral subpleural ectopic brain tissue in a 23-week-old fetus.

Bilateral lesions were seen in the subpleural region in a 23-week-old aborted male fetus. This fetus was not macerated and showed no central nervous system abnormality on physical examination and vertebral magnetic resonance imaging (MRI). Postmortem examination revealed bilateral, paravertebral, subpleural, circumscribed, yellowish-white, fluent lesions 2.5 x 1 x 1 cm in size. These lesions were localized on the upper part of both lungs and there was no other internal malformation. Histological examination of lesions showed adult neurones and well-differentiated neural tissue with white and gray matter, choroid plexus, ependymal structures and, rarely, some peripheral neural cells in addition to immature neuroectodermal cells. These cells were more mature than those in the brain tissue.

Abortion, Spontaneous↗
PubMedDate not supplied

Two male patients with nevoid basal cell carcinoma syndrome from Turkey.

Nevoid basal cell carcinoma syndrome, also known as Gorlin's syndrome, is a familial autosomal dominant syndrome characterized by multiple basal cell carcinomas, multiple odontogenic keratocysts of the jaws, and skeletal anomalies. Both tumors and malformations of the central nervous system occur with nevoid basal cell carcinoma. Medulloblastoma is the primary brain tumor most frequently associated with this syndrome. The authors report in this article two male patients with nevoid basal cell carcinoma syndrome: a 22-year-old male patient with multiple odontogenic keratocysts, who had medulloblastoma at two years and multiple basal cell carcinoma at 10 years of age, and a 15-year-old male patient with skeletal abnormalities and multiple odontogenic keratocysts in the jaws.

Adolescent↗
PubMedDate not supplied

Familial microtia in four generations with variable expressivity and incomplete penetrance in association with type I syndactyly.

Familial microtia with external ear canal atresia and conductive deafness is rarely reported. Autosomal dominant and recessive inheritance have been suggested depending on various family reports. Cases with other malformations in addition to microtia have been described, although the microtia generally is an isolated finding. Here we report a family with microtia, external auditory canal atresia and conductive deafness in four generations. The mode of inheritance of the disease was autosomal dominant within this family. Also, variable expressivity, incomplete penetrance and generation skipping are evident in the pedigree. Association of microtia with type I syndactyly, which has never been reported previously, was present in the index case.

Child, Preschool↗
PubMedDate not supplied

A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease).

The association of corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity with hyperglycinemia was presented for the first time by Balci and colleagues in 1974. After this report, some similar cases in the literature were referred to as Balci's syndrome. In this paper we describe a new case of Balci's syndrome, a 2.5-month-old female patient with corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spacticity. All of these findings are acceptable as Balci's syndrome, and in addition she had congenital heart disease (ventricular septal defect) and renal anomalies. In this paper other syndromes associated with corneal opacity and mental retardation are discussed.

Abnormalities, Multiple↗