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PubMed2003

A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

UNLABELLED: We report a 13-year-old female patient with multiple congenital abnormalities (microcephaly, facial dysmorphism, anteverted dysplastic ears and postaxial hexadactyly), mental retardation, and adipose-gigantism. Ultrasonography revealed no signs of a heart defect or renal abnormalities. She showed no speech development and suffered from a behavioural disorder. CNS abnormalities were excluded by cerebral MRI. Initial cytogenetic studies by Giemsa banding revealed an aberrant karyotype involving three chromosomes, t(2;4;11). By high resolution banding and multicolour fluoresence in-situ hybridisation (M-FISH, MCB), chromosome 1 was also found to be involved in the complex chromosomal aberrations, confirming the karyotype 46,XX,t(2;11;4).ish t(1;4;2;11)(q43;q21.1;p12-p13.1;p14.1). To the best of our knowledge no patient has been previously described with such a complex translocation involving 4 chromosomes. This case demonstrates that conventional chromosome banding techniques such as Giemsa banding are not always sufficient to characterise complex chromosomal abnormalities. Only by the additional utilisation of molecular cytogenetic techniques could the complexity of the present chromosomal rearrangements and the origin of the involved chromosomal material be detected. Further molecular genetic studies will be performed to clarify the chromosomal breakpoints potentially responsible for the observed clinical symptoms. CONCLUSION: This report demonstrates that multicolour-fluorescence in-situ hybridisation studies should be performed in patients with congenital abnormalities and suspected aberrant karyotypes in addition to conventional Giemsa banding.

Abnormalities, Multiple↗
PubMed2003

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

Transfer of nucleic acid from cytoplasmic organelles to the nuclear genome is a well-established mechanism of evolutionary change in eukaryotes. Such transfers have occurred throughout evolution, but so far, none has been shown unequivocally to occur de novo to cause a heritable human disease. We have characterized a patient with a de novo nucleic acid transfer from the mitochondrial to the nuclear genome, a transfer that is responsible for a sporadic case of Pallister-Hall syndrome, a condition usually inherited in an autosomal dominant fashion. This mutation, a 72-bp insertion into exon 14 of the GLI3 gene, creates a premature stop codon and predicts a truncated protein product. Both the mechanism and the cause of the mitochondrial-nuclear transfer are unknown. Although the conception of this patient was temporally and geographically associated with high-level radioactive contamination following the Chernobyl accident, this case cannot, on its own, be used to establish a causal relationship between radiation exposure and this rare type of mutation. Thus, for the time being, it must be considered as an intriguing coincidence. Nevertheless, these data serve to demonstrate that de novo mitochondrial-nuclear transfer of nucleic acid is a novel mechanism of human inherited disease.

Adolescent↗
PubMed1999

Hox genes in digit development and evolution.

Homeobox genes located in the 5' part of the HoxA and HoxD complexes are required for proliferation of skeletal progenitor cells of the vertebrate limb. Specific combinations of gene products determine the length of the upper arm (genes belonging to groups 9 and 10), the lower arm (groups 10, 11 and 12) and the digits (groups 11, 12 and 13). In these different domains, individual gene products quantitatively contribute to an overall protein dose, with predominant roles for groups 11 and 13. Quantitative reduction in the gene dose in each set results in truncations of the corresponding anatomical regions. The physical order of the genes in the HoxA and HoxD complexes, as well as a unidirectional sequence in gene activation, allow for completion of the process in a precise order, which in turn makes possible the sequential outgrowth of the respective primordia. While the skeletal patterns of upper and lower limb are relatively stable throughout the tetrapods, more variation is seen in the digits. Molecular analysis of the underlying regulatory processes promises further exciting insights into the genetic control of development, pathology and the course of evolution.

Animals↗
PubMed1999

Gli genes and limb development.

During development of the limb Shh plays a key role as a mediator of zone of polarizing activity (ZPA). However, the molecular mechanisms by which Shh directs anterior/posterior patterning in the limb remain unknown. Members of the Gli gene family encode zinc-finger transcription factors and represent likely candidates for being regulators of Shh target genes. In this review we would like to summarize the current knowledge on expression and function of Gli genes in limb development.

Animals↗
PubMed1998

Idiopathic nephrotic syndrome and hexadactyly in two brothers.

Familial idiopathic nephrotic syndrome is rare. Only about 3% of patients have affected siblings. The association of familial nephrotic syndrome with congenital abnormalities is even more uncommon. To our knowledge this is the first report of the association of steroid-sensitive nephrotic syndrome and postaxial hexadactyly in two brothers born to consanguineous parents.

Adolescent↗
PubMed1998

Early sonographic aspects of kidney morphology in Bardet-Biedl syndrome.

Bardet-Biedl syndrome is an autosomal recessive disorder characterized by postaxial hexadactyly, obesity, mental retardation, pigmented retinopathy, hypogonadism, and renal disease. Morphological changes are present in all areas of the kidney, the renal medulla being the most frequently affected site. Cystic and dysplastic changes are prevalent. Seven children from five families were followed from birth through their 5th birthday. Serial renal sonography revealed a number of characteristic features. Bilateral renal enlargement and increased parenchymal echogenicity were present at birth. The usual corticomedullary differentiation was absent. Pyramids were either not seen or deformed. With high-resolution ultrasonography, small cysts were detected at the corticomedullary junction. After the 3rd month of life, there was a striking inversion of normal echogenicity, the inner medulla became more echogenic and was demarcated from the less-echogenic cortex. After 12 months, the kidney size regressed significantly. Fetal lobulation persisted in some patients. In conclusion, ultrasonography is a useful tool to evaluate the extent of renal lesions, but more importantly to differentiate bilateral polycystic kidney diseases in the newborn period.

Diagnosis, Differential↗
PubMedDate not supplied

Features described and illustrated in 1684 suggesting Meckel-Gruber syndrome.

In 1684, Mr. Christopher Krahe described a monstrous child, born in Denmark on Friday, February 29, 1684. The description is suggestive of a diagnosis of Meckel-Gruber syndrome (dysencephalia splanchnocystica). This may represent the oldest description and illustration of the syndrome, of which the first detailed description is attributed to Johann Friedrich der Jüngere in 1822.

Abnormalities, Multiple↗
PubMed1994

Duplication of the thumb. A 20-year retrospective review.

Thumb duplication is a common congenital abnormality accounting for 6.6% of all hand deformities. The object of the primary surgery is to achieve a thumb with aligned joint surfaces and epiphyses perpendicular to the long axis, central flexor and extensor tendons, and adequate collateral ligaments. Experienced surgeons with an understanding of the abnormal anatomy and knowledge of the numerous refinements in technique cannot guarantee a flawless result. Of 43 cases treated in this Unit during the period 1970-1989 49% were noted to have secondary deformities. Angulation at the IP and/or MP joints were the most commonly observed problems. Unsatisfactory results were seen with a greater frequency following correction of the more complex deformities.

England↗
PubMed2004

Hypoplastic synpolydactyly as a new clinical subgroup of synpolydactyly.

A large kindred which was first described in 1995 was investigated again. We present the clinical, radiological, genetic and surgical findings of the hand deformities found in homozygote individuals which we called "hypoplastic synpolydactyly". There were 125 affected (heterozygote or homozygote) people out of 245 subjects in the five last generations. We identified seven marriages of two affected people. Twelve offsprings, of these marriages had a homozygote genetic pattern and "hypoplastic synpolydactyly". From both the clinical and surgical perspectives, their hand deformity was distinctive from that of their parents. We surgically treated both hands of three individuals with this deformity. The hand deformity of these homozygotes was so complicated and distinctive that it can be evaluated as a new subgroup of synpolydactyly.

Bone Wires↗
PubMed2005

Long-term follow-up of surgical treatment for thumb duplication.

There are few long-term follow-up reports concerning the treatment of thumb duplication. We reviewed the treatment of 19 of 74 patients treated at our institution between 1956 and 2002. The average follow-up was 22 (range, 7 years to 35 years) years. Satisfactory function was achieved in 18 thumbs and cosmesis in 12 thumbs. Six thumbs were cold-intolerant at this late follow-up. Pinch strength was similar to the contralateral normal thumbs. Collateral ligament repair did not significantly contribute to joint stability. An objective method of postoperative evaluation showed good results in five, fair results in 12 and poor results in two thumbs.

Adolescent↗
PubMed2006

Radial shift of the ulnar fingers: a new technique for special cases of longitudinal central deficiency.

Treatment of central longitudinal deficiencies is well defined, with different techniques established for the classical clefts. However, none of these techniques is easily applied to the treatment of very deep clefts accompanied by a significant divergence of the metacarpal bones. In such cases, the results of current techniques are disappointing. We propose a new technique of "Translocation in the Radial direction of the Ulnar Finger(s)" (TRUF) by intra-carpal osteotomy. The results are illustrated in three clinical cases. The TRUF operation allowed closing of the cleft, alignment of the metacarpal bones and preservation of carpometacarpal mobility. When necessary, a metacarpal synostosis may be treated at the same procedure.

Bone Transplantation↗
PubMed2006

Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes.

Myofibrillar myopathies are genetically heterogeneous. We present a sporadic case of an 8-year-old boy with unusual combination of congenital skeletal muscle myopathy, cataract and poly/syndactyly. Muscle pathology revealed a mild myopathic picture with hyaline plaques, showing dark green staining in modified trichrome reaction, and strong immunoreactivity for alphaB-crystallin, desmin and dystrophin. Analysis of the coding sequences of the desmin, alphaB-crystallin, SEPN1, lamin A/C genes and of exon 2 of the myotilin gene showed no abnormalities in the patient. Presented case expands the wide clinical spectrum of myofibrillar myopathies, reinforcing the need for further exploration of genetic causes for this group of disorders.

Cataract↗
PubMedDate not supplied

The possible association between the combination of vaginal metronidazole and miconazole treatment and poly-syndactyly Population-based case-control teratologic study.

The objective of the study was to investigate the human teratogenic potential of vaginal metronidazole+miconazole treatment during pregnancy, because these antimicrobial drugs separately did not indicate human teratogenic potential in our and other studies. The analysis of cases with 21 groups of congenital abnormalities and their all matched controls was carried out in the population-based data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996 including 38,151 pregnant women who had newborn infants without any congenital abnormalities (control group) and 22,843 pregnant women who had newborn infants or fetuses with congenital abnormalities. The prevalence of vaginal metronidazole+miconazole treatment during pregnancy was 2.5% (N=576) in the case group and 2.2% (N=846) in the control group [crude prevalence odds ratio (POR) with 95% confidence interval (CI): 1.2, 1.0-1.3]. The analysis of cases and their matched controls indicated an association between vaginal metronidazole+miconazole use and poly/syndactyly during the second through third months of gestation (adjusted POR 6.0, 95% CI 2.4-15.2). This finding may be connected with recall bias, although this bias was restricted by the evaluation of maternal drug use only during the critical period of poly/syndactyly and by evaluating only medically recorded metronidazole+miconazole treatment. The conclusion of the study is that this finding can be regarded as a signal for the possible association between vaginal treatment of metronidazole+miconazole during pregnancy and poly/syndactyly without any plausible biological hypothesis.

Administration, Intravaginal↗
PubMedDate not supplied

Teratogenicity and developmental toxicity of chlorpyrifos. Maternal exposure during organogenesis in mice.

Chlorpyrifos, an organophosphate pesticide, was evaluated for potential teratogenicity and developmental toxicity in mice. Pregnant females were given a single intraperitoneal injection (40 or 80 mg/kg) on day 10 of gestation and fetuses were evaluated on gestation day 17. At 80 mg/kg, chlorpyrifos treatment resulted in a significant reduction in numbers of live fetuses, and increase in resorptions, versus control litters. There was no indication of maternal toxicity. External and skeletal malformations were observed at 80 mg/kg, but not 40 mg/kg. Rates of fetuses with cleft palate increased significantly (p<0.05) following 80 mg/kg chlorpyrifos (5.97%) versus control litters (0.97%). Similarly, the absence of thoracic vertebrae was increased and the number of caudal vertebrae was significantly decreased. It is suggested that chlorpyrifos is teratogenic and embryotoxic in mice at doses below those that cause significant maternal toxicity.

Abnormalities, Drug-Induced↗
PubMed2005

Teratogenic effects of static magnetic field on mouse fetuses.

A short period of exposure of pregnant mice to a strong static magnetic field of 400 mT -- 8000 times that of the earth -- in a dorso-ventral direction had teratogenic effects on developing fetuses. Fetuses were exposed to the static magnetic field in utero for 6 min on 1 day from 7.5 to 14.5 days of pregnancy. Exposed and control groups consisted of 10 pregnant mice each; thus 160 animals were used in total. Various malformations were observed in 15.1%, 13.4%, 15.8%, 16.7%, 20.8%, 24.3%, 24.4%, and 14.1% of fetuses exposed on days 7.5, 8.5, 9.5, I0.5, 11.5, 12.5, 13.5, and 14.5 of pregnancy, respectively. Types of malformations were polydactylism, abdominal fissure, fused rib, vestigial 13th rib, lumbar rib, brain hernia, and curled tail, while only a low incidence (up to 2.8%) of curled tail was detected in control group. These deformations apparently caused by SMF exposure but the effect did not reflect so-called exposure period specificity.

Animals↗
PubMed2005

Laurence-Moon-Bardet-Biedl syndrome for kidney transplantation at the age of 57 years.

Laurence-Moon-Bardet-Biedl syndrome represents a very rare indication for kidney transplantation. Previous reports mention only pediatric organ recipients with this diagnosis. We present the case of a Caucasian male patient who underwent a cadaveric renal transplantation at the age of 57 years. Our patient had an uneventful immediate postoperative course; however, 4 months after the operation he suffered pneumonia and cytomegalovirus infection. He recovered fully and had an episode of acute cholecystitis. At the time of the laparoscopic cholecystectomy we also laparoscopically removed his Tenckhoff catheter, a procedure he could not undergo for more than a year because of a chronic scabies infection. Now, 18 months after his transplantation he is fully rehabilitated with a serum creatinine of 90 micromol/L. In selected cases even in older age kidney transplantation could offer a higher quality of life for this mentally retarded, blind population.

Bardet-Biedl Syndrome↗