Shubha R Phadke

..This case differs from the classical Catel-Manzke syndrome in having isolated hand malformations without any other malformations such as cleft palate or cardiac abnormalities...

..It has been suggested that expansions < or = 6 alanine residues go without medical attention, as no such expansion has ever been reported with the SPD1 phenotype...

..Genetic counselling of the family for reproductive risks and testing siblings of the mother for detection of balanced carriers is essential...

..To assess the impact of genetic counseling in Indian milieu...

..The authors report a child with features of Cardiofacial syndrome with anotia and facial paralysis. This is the first report of such an association...

..Here, we describe a very unusual type of hand malformation characterised by campto-polydactyly with totally disorganised configuration of digits. The role of possible genes involved in development of hands and digits is discussed...

..We conclude that pamidronate does not improve peripheral osteolysis in multicentric osteolysis and nodular arthropathy caused by mutation in matrix metalloproteinase 2 gene...

..The features are compared with other cases with limb and renal abnormalities reported in the literature. This case along with similar two cases reported by Halal and Tobias delineates acro-renal-mandibular syndrome as a distinct entity...

..We believe these cases represent a new autosomal recessive disorder of neuronal migration. Other similar cases of lissencephaly are reviewed...

..The X-rays of hands showed dislocation of the distal end of the radius and growth of the radius over the head of the ulna with total absence of carpal bones and hypoplastic tarsal bones. This is first report of such an association...

..Enzyme replacement therapy helped in ameliorating the patient's symptoms and preventing complications such as renal failure, stroke and cardiovascular disorders...

..Pediatricians with short training can take over the responsibility of providing counseling for common genetic disorders and may need to refer others to genetic centre for counseling and prenatal diagnosis...

..We report a fetus with symmetrical terminal transverse limb deficiency. Two earlier reports described patients with similar defects. These patients resemble the animal models that result from the removal of apical ectodermal ridge...

..One of the sibs has urinary incontinence and growth hormone deficiency, which has not been reported earlier in any type of OFDS in the literature...

..1 provided evidence against linkage to this region. The associated findings of retinoschisis and mental retardation in two brothers suggest a new mental retardation syndrome likely to be an X linked trait...

..We investigated the main genetic causes of ARO in eight Indian patients with early postnatal onset and the typical severe clinical course including visual impairment and anaemia...

..The role of genetic defect in polydactyly syndromes and the correlation between genotypes and phenotypes is discussed in this review article...

..The severity of cases varies greatly. With availability of information about genetic modifiers of beta-thalassemia phenotype, attempts are being made to study genotype phenotype correlation in thalassemia intermedia...

..Instead, 2 novel alleles are described, including 64_65delGC, which was present on a single PEX7 haplotype and could represent a common allele in the Indian population...

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..They were thin in childhood and while two of the postpubertal sibs have a stocky build none is obese. We propose that this could be a previously unreported autosomal recessive syndrome...

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..We describe two siblings from India with the condition and report a novel homozygous mutation in them (c.1172_1173insC). One of them had atlantoaxial dislocation...

..To detect subtelomeric copy number variations (deletions and duplications) using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique in children with idiopathic mental retardation...

..CONCLUSION: Haemophilia societies act as strong media in educating affected families. Multiple factors affect the attitude towards PND and abortion of affected fetuses...

..The confirmation of diagnosis is possible after autopsy. Associated malformation of other organs and deformation due to oligohydromnios are commonly present...

..There is limited literature available on the phenotypic and mutation spectrum of Indian patients with Lysosomal storage disorders (LSD)...

..Furthermore, this case illustrates that karyotyping of both fetuses is warranted when 1 of the twins is found to have major malformations...

..Quantitative PCR results show that SMN1 copy number analysis is useful to identify couples at risk. CONCLUSION: Case analyses depict unique psychosocial issues associated with prenatal diagnosis of SMA from India...

..Present case signifies the importance of chromosomal analysis in a patient with developmental delay/ mental retardation and discuss lyonization in cases with X; autosome translocation...

..Size of EcoRI fragment varied between 17 kb to 27 kb in affected subjects and was constant for affected members of the same family. Molecular diagnosis by southern blotting has helped to provide genetic counseling for the families...

..A 3-month-old male child presented with typical features of acrocallosal syndrome. He satisfies Courten's diagnostic criteria for acrocallosal syndrome...

..DNA sequencing confirmed the results of the restriction fragment length polymorphism. Our study is the first report from Indian subcontinent to show the prevalence of S252W mutation among Apert syndrome patients from Indian origin...

..the role of apolipoprotein E gene polymorphisms in the etiology of recurrent pregnancy loss (RPL) is not clearly understood. We evaluated this polymorphism in unexplained pregnancy losses among North Indian women...

..Karyotype is the important investigation in the evaluation of a case with ambiguous genitalia and chromosomal analysis should not be limited to only presence of X and Y chromosomes...

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..Vitamin D receptors (VDRs - FokI, TaqI, and Bsml) polymorphisms are closely related to low BMD at the lumbar spine and hips which can be used as a useful genetic marker in predicting bone disease in these patients...

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..5% cases of maternal nondisjunction and 100% cases of paternal nondisjunction. The combination of three STR markers is highly informative and can be used for diagnosis of trisomy 21 in India...

..To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia...

..Facial anomalies are usually associated with HPE. Chromosomal study of the case and clinical examination of the parents is essential for providing information regarding risk of recurrence to the family...

..We conclude that application of the principles of geometric morphometrics to study of shape variation in facies of patients with dysmorphic syndromes appears to be a promising new area of research...

..The remaining 3 cases had miscellaneous disorders with limb asymmetry, namely Neurofibromatosis Type I in 2 cases and Olliers disease in one case. CONCLUSION: Efforts to diagnose syndromes of hemihyperplasia help in genetic counseling...

..The pattern of malformations differs from the classical Treacher Collins syndrome. We consider it to be mandibulofacial dysostosis (MFD), Toriello type with some additional features...

..Inversion mutation was detected in 37% of severely affected patients. Based on present and previous studies from India, a strategy has been proposed to provide molecular diagnosis to a large number of undiagnosed cases of haemophilia A...

..However, most of the families were ignorant about the lack of curative treatment, chromosomal nature of the disorder and prenatal screening and testing options...

..CONCLUSION: Neuroimaging should be the standard clinical practice for a child with global developmental delay where no cause is apparent after examination and relevant investigations...

..Variable response to deferiprone has been observed in the management of iron overload in patients with thalassemia major. Our objective was to assess the long-term efficacy of deferiprone in patients with thalassemia major...

..Being semi-quantitative, MLPA is also effective in detecting duplications and carrier testing of females; both of which cannot be done using multiplex PCR. It has found applications in diagnostics of many genetic disorders...

..355 C >; G (p.H119D). They were born to non-consanguineous parents from Karnataka. This suggests founder effect. Mutation detection confirms the diagnosis and assists in counseling and prenatal diagnosis...

..We report a case of congenital swan neck deformity of the fingers in a 16-year-old boy, with associated ulnar deviation of the fingers, bilateral simian creases and soft tissue syndactyly...

..This is the first report of association of isolated hemihyperplasia with skin changes similar to Ehlers-Danlos syndrome...

..There is also a need to make the screening more readily available and to motivate high-risk groups through awareness-raising programmes...

..The objective of this article was to ascertain the opinion of lay persons and medical practitioners in India regarding late termination of pregnancies (LTOP) for fetal abnormalities...

..In addition the baby had facial dysmorphism and broad thumbs and great toes similar to Oto-palato-digital syndrome type II (OPD II). The association of these features with ATD is not reported till date...

..The case being reported is a 7- month-old Indian boy with Caffey disease who was found to have the R1014C heterozygous mutation in the COL1A1 gene. This is the first mutation report of an Indian case with Caffey disease...

..She did not have any clinical manifestations. This is the commonest mutation worldwide responsible for X-linked variety of this disease and has been demonstrated for the first time in an native Indian patient...

..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...

..To overcome this existing confusion, we present three patients with cutis laxa type II and review the literature to highlight the important differentiating features between cutis laxa type II and wrinkly skin syndrome...

..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...