Escolar con displasia cleidocraneal: importancia del diagnóstico precoz / No disponible

La displasia cleidocraneal (DCC) es una enfermedad autosómica dominante poco frecuente,con alta penetrancia y expresión variable, caracterizada por la presencia de suturas cranealesabiertas, hipoplasia o aplasia clavicular y anormalidades dentarias complejas.En el presente artículo se expone un caso de DCC en un escolar con antecedentes familiaresde hipoacusia. Este niño fue diagnosticado a los tres meses de vida, por presentar macrocefalia,braquicefalia, fontanela anterior amplia, diástasis de suturas e hipertelorismo. En la exploraciónfísica, los hombros podían aproximarse a la línea media. Las radiografías revelaron hipoplasia declavículas. Se resalta la importancia del diagnóstico precoz para evitar acciones innecesarias, comosobredosificación de vitamina D. Por otro lado, se recomienda actuar convenientemente sobrelos trastornos dentales con un equipo multidisciplinario. El objetivo final es proveer una aparienciafacial estética y conseguir una oclusión funcional en la adolescencia tardía o adulteztemprana. La inteligencia y la esperanza de vida son normales sin complicaciones serias

Cleidocraneal dysplasia (CCD) is an infrequent autosomal dominant disease with high penetranceand variable expression characterized by open skull sutures, hypoplastic or aplasticclavicles and complex dental abnormalities.In this article we report a case of CCD in a school age child with a family history of hearingloss. The child was diagnosed due to the presentation of a macrocephalic and braquicephalicskull with large fontanelle, open sutures and hypertelorism at three months of age. On examinationthe shoulders have the ability to come together at the midline. Plain radiographs revealedhypoplastic clavicles.The early diagnosis is remarked to avoid unnecessary proceedings as overdosification of vitaminD. On the other hand it is recommended a multidisciplinary team to treat appropriately dental abnormalities. The overall goal is to provide an esthetical appearance of the face and toget a functional occlusion by late adolescence or young adulthood. Intelligence and life expectancyare normal with not serious complications

[Holt-Oram syndrome: characterization of a novel mutation]. / Síndrome de Holt-Oram: caracterización de una nueva mutación.

INTRODUCTION: Cardiomyelic syndromes encompass congenital heart disease and skeletal malformations of the upper limbs and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is caused by a dominant mutation in the TBX5 gene that alters the three-dimensional structure of the protein and its DNA binding function. Several point mutations and deletions in TBX5 have been reported in patients with the Holt-Oram syndrome phenotype. PATIENTS AND METHODS: The proband was a boy with a large atrial septal defect ostium secundum type and a ventricular septal defect, diagnosed by clinical findings (heart murmur) and echocardiography. He also presented slightly hypoplastic thumbs with distal bilateral placement and an implantation index of 0.19 (compared with an average of 0.50 for his gestational age at birth). The boy was referred to the department of medical genetics to rule out 22q11.2 microdeletion syndrome. RESULTS: Karyotype and fluorescence in situ hybridization at locus D22S75 were both normal. Because of his clinical findings, molecular study for Holt-Oram syndrome was indicated, leading to the finding of a mutation at intron 7 of TBX5, probably producing a splicing alteration of the gene and resulting in a protein truncated at its C-terminal end. The proband's parents presented the wild type sequence of the gene, thus indicating that the mutation was produced de novo, although a possible germinal mosaicism in the parents could not be ruled out. CONCLUSIONS: Holt-Oram syndrome is the most frequent cause of cardiomyelic syndrome. All children with heart malformations and abnormalities of the upper limbs such as absent, hypoplastic, distally placed or triphalangic thumbs should undergo molecular studies for this syndrome.

Síndrome de Holt-Oram: caracterización de una nueva mutación / Holt-Oram syndrome: characterization of a novel mutation

Introducción Los síndromes cardiomiélicos comprenden cardiopatías congénitas y malformaciones esqueléticas de los miembros superiores, y están relacionados con mutaciones deletéreas de factores de transcripción con dominios del tipo T-Box. El síndrome de Holt-Oram se debe a una mutación dominante en el gen TBX5 que altera la estructura tridimensional de la proteína impidiendo su correcta unión al ADN. Se han descrito varias mutaciones puntuales y deleciones de TBX5 en pacientes con fenotipo de síndrome de Holt-Oram. Pacientes y métodos El paciente es un niño con una comunicación interauricular (CIA) del tipo ostium secundum grande y una comunicación interventricular (CIV) diagnosticados por clínica (soplo) y ecocardiografía. Presenta además unos dedos pulgares algo hipoplásicos y con un emplazamiento distal bilateral, con un índice de implantación de 0,19 frente a una media normal de 0,50 para su edad gestacional al nacer. Es remitido a la consulta de Genética para descartar microdeleción 22q11.2. Resultados El cariotipo y la hibridación in situ de fluorescencia (FISH) con sonda D22S75 resultaron normales y debido a los hallazgos clínicos se realizó un estudio molecular para el síndrome de Holt-Oram. Se encontró una mutación en el intrón 7 de TBX5 que produce una probable alteración del splicing del gen que da lugar a una proteína truncada en su extremo C-terminal. Los padres del propósito presentan una secuencia normal para el gen, lo que indica que la mutación se produjo de novo, sin que pueda descartarse un mosaicismo germinal en los padres. Conclusiones El síndrome de Holt-Oram es la causa más frecuente de síndrome cardiomiélico. Debería ser objeto de estudio molecular todo niño con malformaciones cardíacas y alteraciones de las extremidades superiores como pulgares ausentes, hipoplásicos, distalmente emplazados o trifalángicos

Introduction Cardiomyelic syndromes encompass congenital heart disease and skeletal malformations of the upper limbs and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is caused by a dominant mutation in the TBX5 gene that alters the three-dimensional structure of the protein and its DNA binding function. Several point mutations and deletions in TBX5 have been reported in patients with the Holt-Oram syndrome phenotype. Patients and methods The proband was a boy with a large atrial septal defect ostium secundum type and a ventricular septal defect, diagnosed by clinical findings (heart murmur) and echocardiography. He also presented slightly hypoplastic thumbs with distal bilateral placement and an implantation index of 0.19 (compared with an average of 0.50 for his gestational age at birth). The boy was referred to the department of medical genetics to rule out 22q11.2 microdeletion syndrome. Results Karyotype and fluorescence in situ hybridization at locus D22S75 were both normal. Because of his clinical findings, molecular study for Holt-Oram syndrome was indicated, leading to the finding of a mutation at intron 7 of TBX5, probably producing a splicing alteration of the gene and resulting in a protein truncated at its C-terminal end. The proband's parents presented the wild type sequence of the gene, thus indicating that the mutation was produced de novo, although a possible germinal mosaicism in the parents could not be ruled out. Conclusions Holt-Oram syndrome is the most frequent cause of cardiomyelic syndrome. All children with heart malformations and abnormalities of the upper limbs such as absent, hypoplastic, distally placed or triphalangic thumbs should undergo molecular studies for this syndrome

[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome]. / Guía clínica para el seguimiento de pacientes con síndrome de Beckwith-Wiedemann.

Beckwith-Wiedemann syndrome (BWS) is characterized by congenital overgrowth, macroglossia and omphalocele or umbilical hernia. Children with BWS may also have all or some of the following features: asymmetry (hemihypertrophy) of the limbs, torso or face, hypoglycemia, organomegaly, ear pits or creases, and embryonal tumors. The frequency of BWS is approximately 1:14,000 births. We present a guide for the management of children with BWS aimed at helping pediatricians and general practitioners or specialists in the clinical follow-up of these patients. This guide has been structured according to different age groups and is based on published evidence.

Guía clínica para el seguimiento de pacientes con síndrome de Beckwith-Wiedemann / Clinical guide to the management of patients with Beckwith Wiedemann syndrome

Los pacientes con síndrome de Beckwith-Wiedemann (SBW) suelen identificarse al nacer por la presencia de macrosomía, macroglosia y onfalocele o hernia umbilical. Muchos de estos niños pueden tener además todos o algunos de los siguientes hallazgos: asimetría (hemihipertrofia) de miembros, torso o cara, hipoglucemia, organomegalia, alteraciones de las orejas (apéndices auriculares, fosetas en el hélix o surcos en la región del lóbulo de la oreja) y tumores embrionarios. La frecuencia del SBW es aproximadamente de 1:14.000 nacimientos. Presentamos una guía cronológica de seguimiento clínico para pacientes con SBW con el objeto de facilitar al pediatra y al médico general o especialista el seguimiento clínico de los pacientes con esta patología. La guía ha sido estructurada para diferentes períodos de edad y está basada principalmente en las evidencias publicadas

Beckwith-Wiedemann syndrome (BWS) is characterized by congenital overgrowth, macroglossia and omphalocele or umbilical hernia. Children with BWS may also have all or some of the following features: asymmetry (hemihypertrophy) of the limbs, torso or face, hypoglycemia, organomegaly, ear pits or creases, and embryonal tumors. The frequency of BWS is approximately 1:14,000 births. We present a guide for the management of children with BWS aimed at helping pediatricians and general practitioners or specialists in the clinical follow-up of these patients. This guide has been structured according to different age groups and is based on published evidence