Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 16 de 16
Filter
1.
Rev. chil. pediatr ; 83(6): 587-594, dic. 2012. ilus
Article in Spanish | LILACS | ID: lil-673074

ABSTRACT

Introducción: El síndrome 3M combina retardo de crecimiento prenatal y postnatal severo, dismorfias faciales (semeja facies "melancólica") y anomalías radiológicas. Es una enfermedad infrecuente de la que hasta el momento se han descrito alrededor de 200 casos. "3M" se refiere a las iniciales de los tres autores que describieron este síndrome. Los rasgos faciales característicos son: cabeza relativamente grande, dolicocefalia, abombamiento frontal, cara triangular, mentón prominente, nariz antevertida, labios gruesos, cejas gruesas, surco nasolabial largo e hipoplasia de tercio medio de cara. Los hallazgos radiológicos, que van apareciendo con la edad son costillas y huesos largos finos y delgados, y cuerpos vertebrales altos. El síndrome 3M se transmite como un rasgo autosómico recesivo y es genéticamente heterogéneo. Objetivo: Descripción del caso clínico de una nina actualmente de 10 años de edad en el que se confirmó este síndrome. Caso clínico: Nina referida a Genética a los 15 meses de vida, por talla baja severa, dismorfias y malformaciones. Su seguimiento clínico y radiológico permitió plantear y confirmar este diagnóstico. Conclusión: En ocasiones sólo el seguimiento longitudinal de pacientes con talla baja severa permite que se evidencien alteraciones sugerentes de un diagnóstico específico. La certificación del diagnóstico favorece un adecuado manejo clínico y consejería genética a los padres.


Introduction: 3M syndrome combines severe prenatal and postnatal growth delay, facial dysmorphism (resembles melancholy facies) and radiological abnormalities. It is a rare disease with 200 cases reported so far. "3M" refers to the initials of the three authors who first described this syndrome. The characteristic facial features are: relatively large head, dolichocephaly, frontal bossing, a triangular face, pointed chin, upturned nose, full lips, full eyebrows, long philtrum and hypoplastic midface. radiological findings which appear with age, include slender long bones and ribs and tall vertebral bodies. 3M syndrome is transmitted as an autosomal recessive trait and is genetically heterogeneous. Objective: Report the clinical case of a girl, now 10 years of age, diagnosed with the syndrome. Case report: An infant girl, 15 months old, was referred to Genetics Clinic due to severe short stature, dysmorphic features and malformations. Her clinical and radiological follow-up led to propose and confirm this diagnosis. Conclusion: Sometimes only longitudinal monitoring of patients with severe short stature evidence abnormalities suggesting a specific diagnosis. The right diagnosis results in suitable clinical care and genetic counseling to parents.


Subject(s)
Humans , Female , Child , Spine/abnormalities , Spine , Dwarfism/diagnosis , Fetal Growth Retardation , Facies , Joint Instability
2.
Rev. chil. pediatr ; 83(1): 42-47, feb. 2012. ilus
Article in Spanish | LILACS | ID: lil-627466

ABSTRACT

Velocardiofacial syndrome (VCFS) is due to a microdeletion on chromosome region 22q11.2. Clinically, it is characterized by congenital anomalies and psychiatric and cognitive manifestations. The most common structural defects are congenital heart disease and palatal anomalies, both due to abnormal development of the pharyngeal pouches. Another less studied manifestation is abdominal wall hernias. Objective: To characterize the frequency and types of hernias in patients with VCFS, and their association with congenital cardiopathies and palatine abnormalities. Patients and Methods: 202 patients were evaluated by direct clinical examination and questionnaire about their phenotypic characteristics. Results were compared to those found in the literature. Results: Age range was 0.5 to 48.4 years old (mean 11.9 years), 50.4 percent were females. Twenty two percent of patients had abdominal wall hernias. Of these, 49.1 percent were inguinal and 40.3 percent, umbilical. Conclusion: Patients with VCFS have a higher incidence of abdominal hernias than general population, described as approximately 5 percent. This is another common manifestation of the syndrome, not attributable to defects in development of pharyngeal pouches and with unknown pathogenesis.


El síndrome velocardiofacial (SVCF) se debe a una microdeleción en la región cromosómica 22q11.2. Clínicamente, se caracteriza por anomalías congénitas y manifestaciones siquiátricas y cognitivas. Entre las malformaciones más comunes, están las cardiopatías congénitas y anomalías palatinas, por defectos en el desarrollo de las bolsas faríngeas. Otra manifestación menos estudiada son las hernias de la pared abdominal. Objetivo: Caracterizar la frecuencia y tipos de hernias en pacientes con SVCF y su asociación con cardiopatías congénitas y anomalías del paladar. Pacientes y Método: Evaluamos 202 pacientes mediante un examen clínico directo y un cuestionario sobre sus características fenotípicas. Comparamos los resultados con la información de la literatura. Resultados: El rango de edad fue de 0,5 a 48,4 años (media de 11,9 años), 50,4 por ciento de sexo femenino. El 22 por ciento de los pacientes presentó hernias de la pared abdominal. De estas, el 49,1 por ciento fueron inguinales y el 40,3 por ciento, umbilicales. La frecuencia de hernias en los pacientes con SVCF es significativamente mayor que la descrita para la población general, aproximadamente un 5 por ciento. Esta es una manifestación común del síndrome, que no es atribuible a defectos del desarrollo de las bolsas faríngeas y cuya patogenia no ha sido definida.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Heart Defects, Congenital/epidemiology , Hernia, Abdominal/epidemiology , DiGeorge Syndrome/epidemiology , Chile , Chromosome Deletion , Cleft Palate/epidemiology , Phenotype , Prevalence , DiGeorge Syndrome/genetics
3.
Rev. chil. pediatr ; 80(2): 157-160, abr. 2009. ilus
Article in Spanish | LILACS | ID: lil-545906

ABSTRACT

Background: The Isochromosome 18q and chromosome 18 short arm deletion (18p-) constitute structural anomalies that are reported with certain frequency in the literature. However, the association of both abnormalities in a patient is very uncommon. Objective: Description of a clinical case of Isochromosome 18 with emphasys in the few phenotypic manifestations. Case-report: Female infant 18 months-old, with short stature, minor dysmorphic features and a slight psychomotor developmental delay, whose chromosomal study in peripheral blood showed a chromosomal mosaicism with two cell lines: chromosome 18 long arm isochromosome and deletion of chromosome 18 short arm. The chromosomal analysis of both parents did not show numerical neither morphological alterations. Discussion: This case illustrates the importance of requesting a karyotype in patients with small stature, dysmorphic features and/or malformations. The patient clinical features are compared with other similar cases described in the literature. The coexistence of both structural abnormalities (mosaicism) is extremely uncommon.


Introducción: El Isocromoma 18q y la deleción del brazo corto del cromosoma 18 (18p-), son anomalías estructurales que se reportan con cierta frecuencia en la literatura. Sin embargo, la asociación de ambas alteraciones en una misma paciente es muy infrecuente. Objetivo: Descripción de un caso clínico de Isocromosoma 18 con énfasis en la escasas manifestaciones fenotípicas. Caso Clínico: Lactante femenino de 18 meses de edad portador de talla baja, dismorfias menores y un leve retraso del desarrollo sicomotor, cuyo estudio cromosómico en sangre periférica mostró un mosaico compuesto por un isocromosoma del brazo largo del cromosoma 18 y otro cromosoma 18 con deleción del brazo p. El análisis cromosómico de ambos padres no mostró alteraciones numéricas ni morfológicas. Discusión: Este caso ilustra la importancia de solicitar un cariograma en pacientes con talla baja, dismorfias y/o malformaciones. Se describen las malformaciones encontradas y se compara con otros casos similares descritos en la literatura. La alteración estructural en mosaico reportada es sumamente infrecuente.


Subject(s)
Humans , Female , Infant , Abnormalities, Multiple/genetics , /genetics , Isochromosomes/genetics , Mosaicism , Facial Asymmetry/genetics , Chromosome Deletion , Developmental Disabilities/genetics , Growth Disorders/genetics
5.
Rev. méd. Chile ; 132(2): 211-218, feb. 2004. ilus, tab
Article in Spanish | LILACS | ID: lil-361498

ABSTRACT

The Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder associated with microcephaly, immunodeficiency, chromosome instability and cancer proneness. The mutated gene that results in NBS codes for nibrin (Nbs1/p95), a DNA repair protein that is functionally linked to ATM, the kinase protein product of the gene responsible of ataxia-telangiectasia (A-T). We report the clinical, cytogenetic and molecular characterization of a second case of NBS in Chile detected by us. The patient is a 7 years old Chilean boy from a consanguineous marriage, with microcephaly, immunodeficiency and acute non lymphocytic leukemia (ANLL). As NBS shares chromosomal and cellular features with A-T, the cytogenetic studies of this patient also included 3 A-T patients. Our results showed that the frequency of spontaneous and X rays induced chromosomal aberrations in NBS are higher than in A-T cells. DNA analysis revealed that the patient is homozygous for the Slavic mutation 657del5 in the NBS1 gene. This finding and the absence of nibrin in patient's cells, confirmed the clinical diagnosis of NBS in our patient.


Subject(s)
Humans , Male , Child , Ataxia Telangiectasia , Chile , Syndrome
7.
Rev. méd. Chile ; 131(3): 314-319, mar. 2003. ilus, tab
Article in Spanish | LILACS | ID: lil-342320

ABSTRACT

We report a female newborn with type II mucolipidoses. This condition is characterized clinically by Hurler like features, progressive psychomotor retardation and death during the first or second year of life. Most cases present during the first year of life, with poor weight gain and coarse facies features. The cause of this rare autosomal recessive hereditary disease is the deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, required for the synthesis of mannose-6-phosphate, the ligand that allows the transport of acid hydrolases into lysosomes. The patient had clinical features commonly found in mucolipidosis II, including disproportionate dwarfism, retarded psychomotor development, coarse facies features, gibbous and restricted joint mobility. The diagnosis was proved by an extremely elevated activity of lysosomal enzymes in the serum, secondary to non-regulated secretion and subsequent intracellular depletion of these proteins. The child suffered recurrent pneumonia and died at 22 months of age


Subject(s)
Humans , Female , Infant , Mucolipidoses , Bronchopneumonia/etiology , Developmental Disabilities , Diagnosis, Differential , Mucolipidoses
8.
Rev. méd. Chile ; 129(5): 515-21, mayo 2001. ilus, tab
Article in Spanish | LILACS | ID: lil-295253

ABSTRACT

Background: DiGeorge anomaly, velocardiofacial syndrome and conotruncal anomaly face syndrome are part of a group of congenital malformations of the chromosome 22q11 microdeletion syndrome, since they share certain phenotypic features as well as a common genetic abnormality. The malformations include mild facial dysmorphic features, conotruncal heart defects, thymic and parathyroid hypoplasia or aplasia and cleft palate. Aim: To describe the initial clinical presentation of children with clinical and molecular diagnosis of 22q11 microdeletion. Patients and methods: Ten children (seven male) with the phenotypic features of 22q11 microdeletion syndrome are reported. Microdeletion was detected in peripheral Iymphocytes by fluorescent in situ hybridisation (FISH) with the TUPLE-1 DNA probe. Results: Two children had abnormal karyotypes, one of them had a visible deletion and another child had an unbalanced translocation inherited from his mother who had a balanced translocation between chromosomes 14 and 22. Two of the 10 patients had an anterior laryngeal web, a malformation infrequently described in this syndrome. Five patients had the diagnosis of DiGeorge anomaly, had a more serious clinical presentation and a higher early mortality. Conclusions: The high frequency of the 22q11 microdeletion syndrome, estimated at 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Chromosome Aberrations/genetics , Chromosome Deletion , Chromosomes, Human, Pair 22/genetics , In Situ Hybridization , Phenotype , DiGeorge Syndrome/diagnosis , DiGeorge Syndrome/etiology
9.
Rev. chil. pediatr ; 71(2): 122-7, mar.-abr. 2000. ilus, tab
Article in Spanish | LILACS | ID: lil-268229

ABSTRACT

La cistinosis nefropática, rara afección recesiva, se produce por defecto en el transporte lisosomal de cistina, y depósitos de cristales intracelulares en riñón, córnea, y otros tejidos. Constituye la primera causa congénita de síndrome de Fanconi, y evoluciona en la primera década de la vida a insuficiencia renal crónica. El diagnóstico se confirma por una detección de cistina en leucocitos y linfoblastos circulantes. Su tratamiento consiste en la reposición de las pérdidas por la tubolopatía, administración de cisteamina, que depleta cistina y favorece su transporte por la pared lisosomal. El objetivo de la presentación es dar a conocer el primer caso de cistinosis documentado y tratado en Chile. Se presenta el caso de un menor hospitalizado a los quince meses de vida, con desnutrición avanzada, raquitismo clínico, deshidratación severa, acidosis metabólica, hipokalemia e hipofosfemia severas, comprobándose tubulopatía de Fanconi. Se detectó concentración elevada de cistina en polimorfonucleares, confirmando diagnóstico de cistinosis. En tratamiento desde hace dos años con cisteamina oral, muestra excelente evolución pondoestatural y conservación de la función renal, persistiendo la tubulopatía


Subject(s)
Humans , Male , Infant , Cystinosis/complications , Renal Insufficiency, Chronic/etiology , Fanconi Syndrome/etiology , Cysteamine/therapeutic use , Cystinosis/diagnosis , Cystinosis/drug therapy , Cystinosis/urine , Hypophosphatemia, Familial/etiology
14.
Rev. chil. pediatr ; 60(2): 100-3, mar.-abr. 1989. tab, ilus
Article in Spanish | LILACS | ID: lil-65951

ABSTRACT

El alcohol y la hidantoína son los teratógenos usados con mayor frecuencia y cada uno está asociado a un síndrome específico. Se presentan 2 pacientes, hijos de mujeres alcohólicas, deficientes mentales y epilépticas. Durante el embarazo, ambas ingirieron alcohol en dosis excesivas y fenitoína 300 mg, una de ellas en forma regular y la otra irregularmente. Los descendientes presentaban rasgos clínicos de ambos síndromes de alcohol y de hidantoína fetal, coincidiendo con los rasgops clínicos del síndrome combinado de alcohol e hidantoína fetal, destacando en los niños retardo pondoestatural y psicomotor severo, microcefalia, blefarofimosis, hipertelorismo, filtrum largo y micrognasia, además, hipoplasia de uñas en una de ellos y fisura palatina en el otro. El descendiente de la mujer alcohólica, que ingirió fenitoína regularmente durante el embarazo , falleció a los 3 meses por muerte súbita y el descendiente de la alcohólica que lo hizo en forma en irregular, sobrevive a los 4 años en condiciones extremas de subnormalidad


Subject(s)
Infant , Child, Preschool , Humans , Male , Female , Fetal Alcohol Spectrum Disorders/complications , Hydantoins/adverse effects
16.
Arch. chil. oftalmol ; 43(2): 263-6, 1986. ilus
Article in Spanish | LILACS | ID: lil-56569

ABSTRACT

Se presenta una pareja de gemelos monocigóticas, con un seguimiento clínico de 10 años portadoras de un síndrome exfoliativo, con una expresión no concordante por lo que se sospecha la influencia de factores ambientales, sobre una base genética


Subject(s)
Aged , Humans , Female , Cataract/genetics , Twins, Monozygotic , Glaucoma, Open-Angle/genetics , Chile , Genetic Diseases, Inborn
SELECTION OF CITATIONS
SEARCH DETAIL