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Shubha R Phadke

Publications and source records attributed to Shubha R Phadke.

At least 19 recordsLinked to original sources
PubMed2006

Morphometric analysis of face in dysmorphology.

Dysmorphology refers to study of human congenital malformations (birth defects). Most of the case reporting in dysmorphology is subjective and is based on experience of the reporting clinician. We have used the methods of geometric morphometrics to analyze the variation in faces of normal individuals and those with dysmorphic syndrome. We obtained photographs of 20 individuals with Rubinstein Taybi syndrome and 30 normal, age and sex matched individuals. The photographs were digitized with 16 landmarks on the face to obtain 32 "x" and "y" co-ordinates. These co-ordinates were then subjected to generalized procrustes superimposition in order to normalize for effects of size, rotation and position of image. The procrustes residuals thus obtained were then subjected to principal component analysis. The principal component analysis resulted in extraction of three important principal components explaining 41%, 17% and 14% of variance, respectively. Discriminant analysis could differentiate the two groups using first two principal component scores for each individual, with a predictive accuracy of 76% (Wilks lambda=0.725, chi2=15.09, d.f.=2, p=0.001). Binary logistic regression analysis showed predictive accuracy of 78% based on this model. The utility of the subjective evaluation of facial characteristics is multifold. The results of the analysis can be used as representatives of the facial dysmorphism for any genotype-phenotype association study. 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.

Adolescent↗
PubMed2006

Hemihyperplasia syndromes.

OBJECTIVE: Hemihyperplasia is a heterogenous group of disorders characterized by asymmetric limb growth. There is considerable confusion regarding their classification and ascertainment into various syndromes. We tried to look into the various aspects of hemihyperplasia syndromes. METHODS: Records of 17 consecutive cases of hemihyperplasia were reviewed and were ascertained into various syndromes based on available literature and diagnostic criteria. RESULTS: Of the 17 cases with hemihyperplasia, 3 cases satisfied the diagnostic criteria for Proteus syndrome. One patient each was ascertained as Klippel Trenaunay Weber syndrome and Hemihyperplasia- Multiple lipomatosis. 9 cases were classified as isolated hemihyperplasia. We found two novel associations with hemihyperplasia; namely Ehlers-Danlos syndrome like skin changes and Poland anomaly on the affected side. 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.

Adolescent↗
PubMed2006

Asphyxiating thoracic dystrophy with facial dysmorphism.

Here it is reported a male newborn baby with features of asphyxiating thoracic dystrophy (ATD) with facial dysmorphism. The disproportionate rhizomelic short stature, narrow thorax, long fibulae, wide metaphysis and trident acetabule are consistent with diagnosis of ATD. 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.

Asphyxia Neonatorum↗
PubMed2006

Unbalanced X; autosome translocation.

Unbalanced X; autosome translocation can result in multiple congenital abnormalities/mental retardation syndrome due to chromosomal imbalance. Here is described a patient with developmental delay, microcephaly, agenesis of corpus callosum, spasticity, seizures and dysmorphism as a result of meiotic malsegregation of balanced X; autosome translocation in mother. 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.

Agenesis of Corpus Callosum↗
PubMed2006

Urorectal septum malformation sequence: ultrasound correlation with fetal examination.

OBJECTIVES: To correlate prenatal and postnatal findings of urorectal septum malformation sequence and to study spectrum of malformation. METHODS: Nine cases were reviewed with features suggestive of urorectal septum malformation (URSM) sequence. Associated anomalies were studied. Sex of the fetus was assigned by karyotype when available or by examination of internal genitalia. RESULTS: Out of nine cases 5 fetuses were male and 4 were female. Gestational age ranged from 14 to 34 weeks. Six cases were complete URSM sequence and 3 were partial URSM sequence. Associated anomalies of other systems were seen in 4 cases. In one case karyotype was 47, XXY. CONCLUSION: Cases with severe oligohydromnios with or without distended bladder, URSM sequence should be suspected, as this condition is usually lethal. Non-visualization of bladder, presence of hydronephrosis, multicystic kidneys or distended gut loops suggests the possibility of URSM sequence. The confirmation of diagnosis is possible after autopsy. Associated malformation of other organs and deformation due to oligohydromnios are commonly present.

Abnormalities, Multiple↗
PubMed2006

Further delineation of acro-renal-mandibular syndrome.

A fetus with ectrodactyly, Pierre Robin sequence, renal aplasia and other anomalies is reported. 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.

Abnormalities, Multiple↗
PubMed2006

Handless, footless fetus.

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.

Abnormalities, Multiple↗
PubMed2006

Delleman syndrome.

Explore the source record for details and available documents.

Central Nervous System Cysts↗
PubMed2006

Ring chromosome 13 in an infant with ambiguous genitalia.

Ring chromosome is a rare chromosomal abnormality. We report a case of ring chromosome 13 associated with ambiguous genitalia. 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.

Abnormalities, Multiple↗
PubMed2006

S252W mutation in Indian patients of Apert syndrome.

Two common mutations in the exon IIIa of fibroblast growth factor receptor 2 account for majority of the cases of Apert syndrome. They can be analyzed by amplifying the segment followed by testing for the abolition of restriction sites. We evaluated two children with typical features of Apert syndrome. A segment of FGFR2 exon IIIa was amplified by polymerase chain reaction. Restriction fragment length polymorphism was analyzed using enzymes MboI and BglI respectively for S252W and P253R mutations. The DNA segment was sequenced using ABI 310 automated DNA fragment analyzer. Both the patients showed S252W mutations. 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.

Acrocephalosyndactylia↗
PubMed2005

Prenatal diagnosis of spinal muscular atrophy: Indian scenario.

OBJECTIVES: To study the psychosocial issues associated with prenatal diagnosis of SMA in India and the use of SMN1 copy number analysis for carrier detection prior to offering prenatal diagnosis. METHODS: Homozygous deletion of SMN1 gene was done by PCR-RFLP. Copy number analysis of SMN1 gene was performed by quantitative PCR. RESULTS: We report our experience of eight cases of prenatal diagnosis for SMA and the use of carrier detection prior to offering prenatal diagnosis. 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.

Chorionic Villi Sampling↗
PubMed2005

Hemihyperplasia with Ehlers-Danlos syndrome like skin changes.

Hemihyperplasia is a condition characterized by asymmetric overgrowth of one or more body parts. It may be an isolated finding or may be associated with various syndromes like Beckwith-Weidemann syndrome, Klippel-Trenaunay-Weber syndrome, Proteus syndrome etc. Pigmentary skin lesions and capillary malformations are commonly seen in cases of hemihyperplasia. We report a case of hemihyperplasia with associated skin hyperextensibility, varicose veins, skin fragility, easy bruising and papery scars, on the side of hyperplasia. This is the first report of association of isolated hemihyperplasia with skin changes similar to Ehlers-Danlos syndrome.

Abnormalities, Multiple↗
PubMed2004

Genetic counseling.

Genetic counseling is a process of communicating medical aspects about a genetic disorder, especially the information regarding risk of occurrence as recurrence of the disease in the family and preventive options. Accurate diagnosis of the affected member is of paramount importance for genetic counseling. Special genetic investigations like DNA analysis and chromosomal analysis are essential for many cases and especially when prenatal diagnosis is necessary. It is essential for pediatricians to identify cases with genetic disorders or possibly genetic disorders. These cases should be adequately worked up to identify accurate etiology as far as possible. The investigations should be done even if they are not going to make any difference in the outcome of the child. The genetic disorders present not only in neonates, but also in children, stillbirths and fetuses. Hence, autopsy of stillbirth and fetuses terminated after prenatal diagnosis is essential for genetic counseling. The importance of genetic counseling as an integral part of management of genetic disorders has to be realized by all clinicians. 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.

Female↗