Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 78
Filtrar
2.
Indian J Pediatr ; 2009 Apr; 76(4): 369-73
Artículo en Inglés | IMSEAR | ID: sea-79916

RESUMEN

OBJECTIVE: The objectives of the study was to know whether the 'thinfat' phenotype exists in newborns, in Central Karnataka and to correlate various factors that contribute to this peculiar phenotype, with emphasis on genetic and maternal environmental factors. METHODS: For 1000 consecutive singleton term newborns, weight, length, head, mid arm, abdominal circumferences, biceps and subscapular skinfolds were measured at birth and compared with measurements of white Caucasian babies born in Southampton UK and Mysore babies at birth. RESULTS: The Davangere babies were significantly smaller in all measurements at birth (p < 0.001) compared to Southampton babies. The deficit varied according to the measurements; It was greatest for birth weight (-1.6 SD, CI -3.0, -0.2), mid arm circumference (-2.0 SD, CI -3.3, -0.8), head circumference (-1.8 SD, CI -3.1, -0.5) and least for length (-0.4 SD, CI -1.9, 1.1) and subscapular skin fold (-0.3 SD, CI -0.25, -0.12). Predictors of skinfold thickness were maternal body mass index (p < 0.05), maternal mid arm circumference (p < 0.001) and consanguinity (p < 0.05). CONCLUSION: Despite being small, truncal adiposity was present in Davangere neonates confirming the 'thinfat' phenotype. The role of consanguinity in other words, the role of genes, is important in determining this 'thinfat' phenotype in newborns.


Asunto(s)
Antropometría , Peso al Nacer , Índice de Masa Corporal , Humanos , Recién Nacido , Edad Materna , Fenotipo , Grosor de los Pliegues Cutáneos , Adulto Joven
3.
Indian J Pediatr ; 2007 Dec; 74(12): 1113-5
Artículo en Inglés | IMSEAR | ID: sea-79694

RESUMEN

Kallmann's syndrome is a rare genetic disorder due to abnormal migration of olfactory axons and gonadotropin releasing hormone producing neurons, characterized by hypogonadism and anosmia. The prevalence of Kallmann's syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. The inheritance of Kallmann's syndrome may be X-linked, autosomal recessive or autosomal dominant with variable penetrance, mutation involving KAL-1 and KAL-2 gene respectively. We report a case of Kallmann's syndrome in a 19-year-old boy with characteristic clinical, biochemical and MRI findings.


Asunto(s)
Adulto , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Estudios de Seguimiento , Humanos , Síndrome de Kallmann/diagnóstico , Masculino , Índice de Severidad de la Enfermedad , Testosterona/uso terapéutico
4.
Indian J Pediatr ; 2007 Dec; 74(12): 1081-3
Artículo en Inglés | IMSEAR | ID: sea-82277

RESUMEN

OBJECTIVE: To determine the baseline Widal titres in apparently healthy children in Davangere. METHODS: Cross-sectional study was done on 250 children. Widal titers were found using tube agglutination test. RESULTS: Out of 250,64.2% had a titre of less than 1:20,22.4% had a titre equal to 1:20,9.6% had a titre of 1:40 and 3.6% had a titre of 1:80 to 'O' antigen and 67.2% had a titre of less than 1:20, 21.2% had a titre equal to 1:20, 8% had a titre of 1:40 and 3.6% had a titre of 1:80 to 'H' antigen of S. enterica subsp. enterica ser. Typhi. No children in age group 6 months-2 years had a titre of 1:80 to either antigen. All children in this age group had a titre of less than 1:20 to AH antigen and older children had a titre upto 1:40 dilution. CONCLUSION: Baseline titres for either S. enterica subsp. enterica ser. Typhi antigen in 6 month-2 year was 1:40 and older children was 1:80. Baseline titres for H antigen of S. enterica subsp. enterica ser. Paratyphi A in 6 month-2 year was less than 1:20 and for older children was 1:40 dilution.


Asunto(s)
Factores de Edad , Aglutinación , Pruebas de Aglutinación , Preescolar , Estudios Transversales , Enfermedades Endémicas , Femenino , Humanos , Incidencia , India/epidemiología , Lactante , Masculino , Fiebre Paratifoidea/epidemiología , Valores de Referencia , Factores de Riesgo , Salmonella paratyphi A/inmunología , Salmonella typhi/inmunología , Índice de Severidad de la Enfermedad , Fiebre Tifoidea/epidemiología
5.
Indian J Pediatr ; 2007 Aug; 74(8): 787-9
Artículo en Inglés | IMSEAR | ID: sea-84601

RESUMEN

Wharton's jelly is a specialized tissue which acts as supportive and protective structure substituting for the adventitia of the umbilical vessels. Absence of Wharton's jelly around the umbilical arteries is very rare and an unusual cause of perinatal mortality. We report a case of absent Wharton's jelly around the umbilical arteries with patent vitellointestinal duct--a rare association.


Asunto(s)
Adulto , Femenino , Seropositividad para VIH , Humanos , Recién Nacido , Masculino , Embarazo , Resultado del Embarazo , Ultrasonografía Prenatal , Arterias Umbilicales/anomalías , Cordón Umbilical/patología
6.
Indian J Pediatr ; 2007 Apr; 74(4): 412-5
Artículo en Inglés | IMSEAR | ID: sea-80656

RESUMEN

Osteopetrosis is a collective term for a range of sclerosing bone diseases resulting from an absence or defective function of osteoclasts. The clinical expression is variable and includes skeletal, hematological and neurological manifestations. The common neurological manifestation includes cranial neuropathies involving optic, cochlear, facial and trigeminal nerves. Spastic quadriplegia occurring as a result of brain stem compression in osteopetrosis is uncommon. The association of Type 1 Arnold Chiari malformation with osteopetrosis resulting in brain stem compression syndrome is an extremely rare entity.


Asunto(s)
Adolescente , Malformación de Arnold-Chiari/complicaciones , Encefalopatías/etiología , Tronco Encefálico/patología , Humanos , Masculino , Osteopetrosis/complicaciones , Cuadriplejía/etiología
7.
Indian J Pediatr ; 2007 Feb; 74(2): 202-5
Artículo en Inglés | IMSEAR | ID: sea-83626

RESUMEN

Eventration of the diaphragm, most often an isolated entity and detected incidentally, has been known to be associated with several genetic syndromes. Authors report their experience of seeing diaphragmatic eventration in association with Poland syndrome and wandering spleen syndrome and briefly discuss the literature.


Asunto(s)
Anomalías Múltiples/diagnóstico , Niño , Eventración Diafragmática/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Masculino , Síndrome de Poland/diagnóstico , Radiografía Torácica , Factores de Riesgo , Tomografía Computarizada por Rayos X
8.
Indian J Pediatr ; 2006 Dec; 73(12): 1109-11
Artículo en Inglés | IMSEAR | ID: sea-82626

RESUMEN

Hyperekplexia is a rare, hereditary, non-epileptic disorder characterized by an exaggerated startle reaction to unexpected auditory, somatosensory and visual stimuli. The authors describe a one-day-old term neonate, who presented with jitteriness and episodic tonic spasms, and his elder sister with hyperekplexia. Hyperekplexia though is a rare disorder is one of the differential diagnoses for refractory tonic spasms in infancy. The prognosis is generally good in hereditary hyperekplexia. Recent molecular studies have revealed many associated mutations in the glycine receptor alpha and beta subunit genes.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Preescolar , Clonazepam/uso terapéutico , Femenino , Humanos , Recién Nacido , Masculino , Reflejo de Sobresalto/genética , Síndrome de la Persona Rígida/tratamiento farmacológico
9.
Indian J Pediatr ; 2006 Oct; 73(10): 937-9
Artículo en Inglés | IMSEAR | ID: sea-81564

RESUMEN

Fetal Valproate Syndrome results from prenatal exposure to valproic acid. It is characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. Here we report a 4-year-old boy with typical facial features of Fetal Valproate Syndrome.


Asunto(s)
Anticonvulsivantes/efectos adversos , Preescolar , Femenino , Humanos , Recién Nacido , Enfermedades del Recién Nacido/inducido químicamente , Masculino , Embarazo , Efectos Tardíos de la Exposición Prenatal/inducido químicamente , Síndrome , Ácido Valproico/efectos adversos
10.
Indian J Pediatr ; 2006 Apr; 73(4): 353-5
Artículo en Inglés | IMSEAR | ID: sea-82243

RESUMEN

In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, prominent eyes, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction. Bilateral hypoplasia of thumbs, absent great toes, short phalanges were other features. Additional features in this case included median pseudocleft unreported earlier and C.T. findings of underdeveloped gyri, ischemic changes in temperoparietal region and bilateral lacunar infarcts in middle cerebral artery territory.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Craneofaciales/diagnóstico por imagen , Femenino , Dedos/anomalías , Deformidades Congénitas del Pie/diagnóstico por imagen , Humanos , Recién Nacido , Síndrome
11.
Indian J Pediatr ; 2006 Mar; 73(3): 245-7
Artículo en Inglés | IMSEAR | ID: sea-83385

RESUMEN

Jarcho-Levin syndrome is an eponym that represents a spectrum of short trunk skeletal dysplasias with variable involvement of the vertebrae and ribs. Initially considered to be lethal, it is now accepted as compatible with life in its milder presentations. Here are reported two neonates with the lethal variety of this syndrome. One neonate had associated anomalies like hydrocephalus, hydroureteronephrosis and meningomyelocoele while the other had no additional anomalies. Also is reviewed the literature regarding this less understood disorder focusing on the applied clinical aspects that have stemmed out from the recent molecular research.


Asunto(s)
Enfermedades del Desarrollo Óseo/congénito , Resultado Fatal , Femenino , Humanos , Recién Nacido , Masculino , Anomalías Musculoesqueléticas/diagnóstico , Costillas/anomalías , Columna Vertebral/anomalías
13.
Indian J Pediatr ; 2005 Dec; 72(12): 1053-4
Artículo en Inglés | IMSEAR | ID: sea-81555

RESUMEN

Larsen syndrome is a condition characterized by generalized defect in collagen formation. Autosomal dominant, autosomal recessive and even sporadic fresh mutations have been reported. Very few cases of lethal variety of Larsen syndrome have been reported in the world. The authors emphasize the importance of recognition of this condition which is often misdiagnosed.


Asunto(s)
Anomalías Múltiples/diagnóstico , Enfermedades del Colágeno/congénito , Luxaciones Articulares/congénito , Cara/anomalías , Resultado Fatal , Humanos , Recién Nacido , Deformidades Congénitas de las Extremidades/diagnóstico , Masculino , Síndrome
14.
Indian J Pediatr ; 2005 Aug; 72(8): 701-3
Artículo en Inglés | IMSEAR | ID: sea-82707

RESUMEN

Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging from mild to severe forms, involving eye, ear, oral and craniofacial structure. We report three members of one family, showing great variability in its phenotypic expression and review the recent literature.


Asunto(s)
Adolescente , Síndrome Branquio Oto Renal/diagnóstico , Niño , Femenino , Genes Dominantes , Humanos , Masculino , Fenotipo
15.
Indian J Pediatr ; 2005 Apr; 72(4): 355-7
Artículo en Inglés | IMSEAR | ID: sea-82571

RESUMEN

Fibrochondrogenesis is a rare lethal short-limb skeletal dysplasia. Till now only fifteen cases have been reported since Lazzaroni-Fossati first described it in 1978. Hence reported a case of fibrochondrogenesis in a child born to a consanguineously married couple with characteristic physical and radiological features and discuss the incidence, inheritance, ultrasonographic, clinical, radiological and pathological characteristics of this disorder.


Asunto(s)
Consanguinidad , Enanismo/diagnóstico , Genes Recesivos , Humanos , Recién Nacido , Masculino , Osteocondrodisplasias/diagnóstico
16.
Indian J Pediatr ; 2005 Feb; 72(2): 181
Artículo en Inglés | IMSEAR | ID: sea-81310

RESUMEN

Here it is reported a 4-year-old boy with Langer-Giedion syndrome (Trichorhino phalangeal syndrome-II), who had characteristic features of TRP II, associated with multiple renal cysts hitherto unreported. This could be a new association in this syndrome that may serve to support the concept of contiguous gene syndrome in patients with TRP II.


Asunto(s)
Preescolar , Humanos , Enfermedades Renales Quísticas/etiología , Síndrome de Langer-Giedion/complicaciones , Masculino
17.
Indian J Pediatr ; 2005 Jan; 72(1): 75-6
Artículo en Inglés | IMSEAR | ID: sea-82996

RESUMEN

Jatropha curcas is common plant found all over India more commonly in the southern parts. Though it is a common cause of accidental poisoning among children in these parts, standard texts rarely cover it. Gastrointestinal manifestations are predominant feature of poisoning with the seeds of Jatropha curcas. Mortality is rare.


Asunto(s)
Adolescente , Niño , Femenino , Humanos , Jatropha/envenenamiento , Masculino , Intoxicación/diagnóstico
18.
Indian J Pediatr ; 2004 Dec; 71(12): 1127-9
Artículo en Inglés | IMSEAR | ID: sea-81127

RESUMEN

Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. cafe-au-lait spots.


Asunto(s)
Anomalías Múltiples , Manchas Café con Leche/complicaciones , Anomalías Craneofaciales/complicaciones , Displasia Ectodérmica/complicaciones , Resultado Fatal , Femenino , Cabello/anomalías , Humanos , Recién Nacido , Recien Nacido Prematuro , Síndrome
19.
Indian J Pediatr ; 2004 Dec; 71(12): e56-7
Artículo en Inglés | IMSEAR | ID: sea-83308

RESUMEN

The authors report two sibs with COFS syndrome and review the relevant literature in brief. They emphasize the importance of prenatal diagnosis in this syndrome that has many mimics.


Asunto(s)
Anomalías Múltiples/diagnóstico , Huesos/anomalías , Encéfalo/anomalías , Preescolar , Anomalías Craneofaciales/genética , Anomalías del Ojo/genética , Humanos , Lactante , Masculino , Síndrome
20.
Indian J Pediatr ; 2004 Sep; 71(9): 857-9
Artículo en Inglés | IMSEAR | ID: sea-79220

RESUMEN

Kabuki make-up syndrome is a rare disorder characterized by mental retardation, postnatal dwarfism and peculiar facies. This condition is believed to be common in Japan, but has been reported from other parts of the world. The authors report a case of this syndrome in an eight-year-old girl, with the characteristic findings from India.


Asunto(s)
Anomalías Múltiples/diagnóstico , Niño , Femenino , Humanos , India , Discapacidad Intelectual/diagnóstico , Síndrome
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA