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Biomedical subjects

B A Bharucha

Publications and source records attributed to B A Bharucha.

At least 19 recordsLinked to original sources
PubMed2003

Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature.

A ring chromosome 12 (p13; q24.33) was observed in all cells analyzed from peripheral blood lymphocytes of a 15-year-old female referred for academic difficulties and growth delay. In addition to clinical manifestations generally observed with ring chromosome 12 such as growth retardation, mental deficiency, microcephaly, the patient had bilateral pseudocamptodactyly of little fingers, mild hirsutism, exaggerated lumbar lordosis, and ostium secundum atrial septal defect (ASD). The clinical features of reported cases are analyzed. The only consistent features were growth retardation and mental deficiency. Breakpoint in all the cases has been at the telomeric region with minimal deletion of chromosomal material. An account of complex changes at mitosis and meiosis in ring chromosome has been given. Examination of 200 metaphases demonstrated 2% cell line was showing 45,XX, -12. Serum lactate dehydrogenase (LDH) level was normal ruling out overlapping monosomy 12 syndrome.

Abnormalities, Multiple↗
PubMed2000

Unusual hand malformations with cardiac defects--a variant of heart--hand syndrome IV.

Reported below is the association of unusual hand malformations and congenital cardiac anomalies, possibly a variant of Heart--Hand syndrome IV in a 10 year old male. In addition to these malformations, he also had genitourinary defects. The differential diagnosis of polydactyly with cardiac defects is discussed along with a review of relevant literature.

Abnormalities, Multiple↗
PubMed2000

Autosomal dominant ectrodactyly with sensorineural deafness.

Ectrodactyly or split hand/split foot malformation as it is now known, is a rare developmental disorder sometimes associated with other systemic malformations. Very few cases of congenital hearing loss coexisting with ectrodactyly have been reported world-wide. We profile one such family with the father and daughter being affected with bilateral foot ectrodactyly minor abnormalities of the 5th fingers and severe sensorineural hearing loss (SNHL). The inheritance in this family was likely to be autosomal dominant. There were no cytogenetically demonstrable structural aberrations in either case.

Adult↗
PubMed2000

Krabbe disease--clinical profile.

OBJECTIVE: To study clinical features and investigations of children with Krabbe Disease (KD). DESIGN: Retrospective. SETTING: Genetic Clinic of a tertiary care teaching hospital. METHODS: Hospital records of patients with enzymatically confirmed KD were analyzed with respect to their clinical features and investigations including neuroimaging (CT-scan and/or MRI). Galactocerebrosidase (GALC) activity was estimated photometrically in the peripheral blood leukocytes. RESULTS: Nine children (age ranging from 2 1/2 months to 8 years) were studied, of which 5 had the classical infantile disease, 3 had late infantile form and one was diagnosed as juvenile KD. GALC levels in peripheral blood leukocytes were low or absent in all. Most of the children with infantile disease presented with neurodegeneration, seizures or fever. Optic atrophy was uncommon in our series (present only in a single case). Majority of the cases had elevated cerebrospinal fluid (CSF) protein levels and peripheral neuropathy on nerve conduction (NC) studies. Findings typical of KD were noted in 7 patients who underwent magnetic resonance imaging (MRI). The sole patient with juvenile disease presented with developmental delay and progressive spastic quadriparesis. CONCLUSION: Krabbe disease should be considered in the differential diagnosis of early infantile onset of neurodegeneration with seizures. Likewise, older children with progressive ataxia or spastic quadriparesis in whom the etiology remains obscure, must be investigated for Krabbe disease. MRI can be diagnostic in absence of availability of enzyme diagnosis.

Age Distribution↗
PubMed1996

Supernumerary limbs: a case report of a rare congenital anomaly.

We report a case of an 18-month-old female who presented with three supernumerary upper limbs of varying lengths on the right side. Each limb had a proximal, middle, and distal segment, and an intercalated elbow and wrist joint. A single digit was present in the superior limb, three digits in the middle limb, and two digits in the caudal-most limb. Right plagiocephaly, congenital torticollis, scoliosis involving the upper and mid thoracic region, and a hypoplastic right pectoralis major were the other abnormal features noted. Radiography showed two scapulae, humerus, a single forearm bone in each limb, and rudimentary metacarpals and phalanges. Limb duplication may rarely be encountered in parasitic conjoined twins. The role of mutagens, drugs, cellular contributions, and morphogens in the growth and differentiation of limbs has been studied in animals. It is rather difficult to deduce the time of action of the factors responsible for such a malformation.

Arm↗
PubMed1996

Clinical and enzyme studies in Gaucher disease.

OBJECTIVE: To study the clinical and biochemical spectrum of Gaucher disease. DESIGN: Assay of beta glucosidase enzyme in leucocytes in patients with splenomegaly, and in chorionic villi for prenatal diagnosis. SETTING: Hospital-based. SUBJECTS: Of 13 cases of Gaucher disease, aged 1-6 years, 9 were identified at Delhi and 4 at Bombay. RESULTS: The enzyme beta-glucosidase was 0.65 nmol/h/mg of protein or less in all the cases in Delhi, and 2.5 nmol/h/mg of protein or less in Bombay. All cases except one belonged to type 1 (hepatosplenomegaly), while one case was of type 2 (neuronopathic). Prenatal diagnosis was carried out in one family and the fetus was found to be affected. CONCLUSION: In children with hepatosplenomegaly and increased acid phosphatase, assay of beta-glucosidase enzyme confirms the diagnosis of Gaucher disease. Diagnosis of the disease is important because enzyme replacement therapy is available and prenatal diagnosis is possible.

Child↗
PubMed1995

Klippel-Trenaunay-Weber syndrome with hydrocephalus: an unusual association.

Macrocephaly is an associated finding with Klippel-Trenaunay-Weber syndrome, the cause of which remains to be determined. Association of this syndrome with hydrocephalus due to aqueductal stenosis has not been reported previously in world literature and is presented in this clinical brief.

Cerebral Aqueduct↗
PubMed1995

Lissencephaly.

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMed1994

Evaluation of short neck: new neck length percentiles and linear correlations with height and sitting height.

Qualitative impressions of neck length are often used as aids to dysmorphology in syndromes like Turner, Noonan, Klippel-Feil and in craniovertebral anomalies, some of which have serious neurological implications. There are no national or international standards for neck length. The present study attempted to create standards and percentile charts for Indian children and compute age-independent correlations of neck length with linear measurements such as standing and sitting height. A total of 2724 children of both sexes between 3 and 15 years, whose heights and weights conformed to ICMR standards were inducted. Neck length was measured by a modified two-point discriminator between two fixed bony points-inion and spinous process of C7 with the head held in neutral position. Percentiles (5th-95th) were constructed for both sexes. Growth was rapid from 3 to 6 years. Neck length formed a mean of 12.7 +/- 4.58% of height and 20.1 +/- 6.73% of sitting height. Age independent linear regression equations: Neck length = 10 + (0.035 x height) and Neck length = 9.65 + (0.07 x sitting height) were highly significant (p < 0.001). Neck length relationships of 30 randomly selected normal children clustered around the regression lines and 16 with genetic syndromes fell below the regression lines.

Adolescent↗