Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.

INTRODUCTION: Cold-induced sweating syndrome type 1 (CISS1) is a rare autosomal recessive genodermatosis caused by mutations in the CRLF1 gene, characterized by profuse sweating when the ambient temperature is below 22°C and morphological alterations. CRLF1 mutations also cause Crisponi syndrome (CS), which presents neonatal muscle contractions, morphological disorders and alterations in the autonomous nervous system. CASE REPORT: A 30-year-old man sought treatment for profuse sweating. His medical record included neonatal admission for generalized hypertonicity. Clinical examination revealed morphological alterations. A genetic study was requested, detecting a c.713dupC mutation in homozygosity in the CRLF1 gene. CONCLUSIONS: We report the case of a male with clinical and genetic diagnosis of CISS1 who in childhood presented clinical characteristics of CS. The mutation detected in CRLF1 has not been described in patients with CISS1, but in one with CS. These data seem to support the theory that CS and CISS1 are variants of the same disorder.

Incontinencia pigmenti. Cuatro pacientes con diferentes manifestaciones clínicas / Incontinentia pigmenti. Four patients with different clinical manifestations

La incontinencia pigmenti (IP) es un trastorno neurocutáneo raro, con una frecuencia de 1 en 50.000 recién nacidos, de etiología genética asociada a mutaciones en el gen IKBKG (NEMO) en Xq28, con herencia dominante ligada al X. Tiene una presentación clínica de manifestaciones muy variables detectadas desde la etapa neonatal, con 3 estadios bien definidos en forma secuencial, solapada o salteada, y cada una de estos con un diagnóstico diferencial distinto. Mediante la técnica molecular de PCR+RFLP se analizó el gen IKBKG en cuatro pacientes diferentes con manifestaciones sospechosas de IP además de la biopsia de piel confirmatoria; en todas se detectó la deleción de los exones 4 al 10. Destacamos que ante la sospecha clínica de IP es importante el estudio familiar y el multidisciplinario (complicaciones neurológicas, oculares...), y el necesario asesoramiento genético(AU)

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR+RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling(AU)

[Incontinentia pigmenti. Four patients with different clinical manifestations]. / Incontinencia pigmenti. Cuatro pacientes con diferentes manifestaciones clínicas.

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR+RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling.

Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expresividad variable / Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation

Introducción: La primera descripción de una displasia mesomélica con acortamiento de extremidades fue realizada por Leri y Weill en 1929. De entonces se ha conocido el gen causal: SHOX, localizado en Xp22 y en Yp11.3, cuyas mutaciones se identifican entre el 56 y el 100% de los pacientes. Pacientes y métodos: Una de nuestras observaciones es familiar y la otra, aislada. Los diagnósticos en ambos casos fueron clínicos, apoyados por la radiología y el estudio molecular del gen SHOX por MLPA. Conclusiones: Su conocimiento tiene implicaciones terapéuticas dada la favorable evolución con hormona de crecimiento, además de posibles actuaciones quirúrgicas y del asesoramiento genético, dado su carácter hereditario autosómico dominante (AU)

Introduction: A mesomelic dysplasia with shortened limbs was first described by Leri and Weillin 1929. Since then the causal gene has been known as SHOX (short stature homeobox) gene, located in Xp22 and Yp11.3, with mutations being identified in between 56% and 100% of the patients. Patients and methods: One of the observations is familial and the other is an isolated case. The diagnosis in both cases was clinical, supported by radiology and a molecular study of the SHOX gene using multiplex ligation-dependent probe amplification (MLPA). Conclusions: Knowledge of this condition has therapeutic implications, given the favourable progress with growth hormone treatment, as well as possible surgical procedures and genetic counselling, due to its autosomal dominant hereditary character (AU)

[Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation]. / Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expresividad variable.

INTRODUCTION: A mesomelic dysplasia with shortened limbs was first described by Leri and Weill in 1929. Since then the causal gene has been known as SHOX (short stature homeobox) gene, located in Xp22 and Yp11.3, with mutations being identified in between 56% and 100% of the patients. PATIENTS AND METHODS: One of the observations is familial and the other is an isolated case. The diagnosis in both cases was clinical, supported by radiology and a molecular study of the SHOX gene using multiplex ligation-dependent probe amplification (MLPA). CONCLUSIONS: Knowledge of this condition has therapeutic implications, given the favourable progress with growth hormone treatment, as well as possible surgical procedures and genetic counselling, due to its autosomal dominant hereditary character.

Epidemiología de las fisuras labiales y palatinas durante los años 1990–2004 en Asturias / The epidemiology of cleft lip and palate over the period 1990–2004 in Asturias

Introducción: Las fisuras labiales y palatinas son los defectos congénitos faciales más frecuentes. Objetivo: Conocer la frecuencia de estos defectos en Asturias y realizar una descripción clinicoepidemiológica de sus anomalías asociadas. Metodología: Análisis de los datos del Registro de Defectos Congénitos de Asturias de los años 1990–2004 sobre una población de 103.452 nacidos y comparación con el European Concerted Action on Congenital Anomalies and Twins y otros registros españoles. Resultados: De los 145 casos registrados, el 26,9% eran fisuras labiales, el 28,3% eran fisuras labiopalatinas y el 44,8% eran fisuras palatinas. La prevalencia total de las fisuras labiales o palatinas fue de 14,4 por 10.000 nacidos. Un 18,6% tenía otros defectos asociados, y fueron más frecuentes las anomalías esqueléticas, las cardiovasculares y las del sistema nervioso central. Un 22,1% de las fisuras labiales y palatinas pertenecía a un síndrome o secuencia reconocida. El diagnóstico prenatal fue del 12,4%, principalmente en los casos polimalformados y síndromes. Conclusiones: La prevalencia total de las fisuras labiales y palatinas en Asturias durante este período fue similar a la de otros registros europeos. Debido a la elevada asociación a otras anomalías, debe realizarse una búsqueda minuciosa de ellas, tanto en la ecografía prenatal como en la exploración del recién nacido (AU)

Introduction: Cleft lip and palate (oral clefts) are the most common congenital facial defects. Objective: To assess the prevalence of oral clefts and to describe the associated malformations in a geographically defined population. Method: Data from the Asturias Registry of Congenital Defects were used to investigate the epidemiology of congenital facial clefts over the period 1990–2004 among the 103,452 births in the region. The results were also compared with data from EUROCAT and other Spanish registries. Results: Out of 145 oral clefts recorded, cleft lip was 26.9%, cleft lip and palate 28.3% and cleft palate 44.8%. Total prevalence of oral clefts was 14.4 per 10,000 births. Other associated defects were found in 18.6% of the total cases, with skeletal, cardiovascular and central nervous systems being the most common anomalies. Syndromes or sequences were found in 22% of clefts. A prenatal diagnosis was made in 12.4%. Conclusion: The prevalence of oral clefts in Asturias over this period fell within the range reported for other European registries. An exhaustive prenatal ultrasound and examination of the affected newborns to look for other malformations should be considered in infants with clefts, due to the high association with them (AU)

Hipocondroplasia. Diagnóstico Clínico, radiológico y genético. A propósito de dos observaciones precoces / Hypochondroplasia. Clinical, radiological and genetic diagnosis. Base don two early observations

La hipocondroplasia es una forma de hipocrecimiento por osteocondordisplasi, de posible infradiagnóstico y transmisión autosómica dominante. Forma menor de la condroplasia, con mutación igualmente localizada en el gen FGFR3, su conocimiento y precocidad en la identificación conducen al asesoramiento genético, a disminuir con medidas de higiene física sus posibles complicaciones y a plantear el alargamiento óseo para mejorar la falla final, mientras no tengamos otras soluciones médicas para ella (AU)

Hipochondroplasia is an osteochondrodyplasia characterized by short stature. Clinical and molecularly similar to achondroplasia since the shortening of legs and bowing of the extremities occur in both syndromes The causative mutations of both entities are in the FGFR3 gene. Misdiagnosis is common since clinical manifestations are subtle in hypochondroplasia. The knowledge, identification and genetic assessment are necessary to avoid possible complications and to evaluate orthopedic therapy with leg lengthening combined with correction of bowlegs as an alternative until we have something else to offer to these patients (AU)

Incontinentia pigmenti con inicio clínico atípico / Atypical onset of incontinentia pigmenti

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[The epidemiology of cleft lip and palate over the period 1990-2004 in Asturias]. / Epidemiología de las fisuras labiales y palatinas durante los años 1990-2004 en Asturias.

INTRODUCTION: Cleft lip and palate (oral clefts) are the most common congenital facial defects. OBJECTIVE: To assess the prevalence of oral clefts and to describe the associated malformations in a geographically defined population. METHOD: Data from the Asturias Registry of Congenital Defects were used to investigate the epidemiology of congenital facial clefts over the period 1990-2004 among the 103,452 births in the region. The results were also compared with data from EUROCAT and other Spanish registries. RESULTS: Out of 145 oral clefts recorded, cleft lip was 26.9%, cleft lip and palate 28.3% and cleft palate 44.8%. Total prevalence of oral clefts was 14.4 per 10,000 births. Other associated defects were found in 18.6% of the total cases, with skeletal, cardiovascular and central nervous systems being the the most common anomalies. Syndromes or sequences were found in 22% of clefts. A prenatal diagnosis was made in 12.4%. CONCLUSION: The prevalence of oral clefts in Asturias over this period fell within the range reported for other European registries. An exhaustive prenatal ultrasound and examination of the affected newborns to look for other malformations should be considered in infants with clefts, due to the high association with them.

Las distintas formas del autismo y sus causas genéticas / The different forms of autism and their genetic causes

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Síndrome de Aarskog-Scott. A propósito de un caso con identificación molecular de la mutación génica / Aarskog-Scott syndrome. About a case report with molecular identification of the gene mutation

El síndrome de Aarskog-Scott, o displasia faciodigitogenital, fue descrito en 1970 por Aarskog. Es una entidad con herencia recesiva ligada al cromosoma X, con una amplia heterogeneidad genética, ya que se han descrito casos compatibles con la transmisión autosómica dominante o semidominante ligada al cromosoma X con expresión parcial en mujeres portadoras. Presentamos el caso de un paciente con datos clínicos compatibles con esta entidad, así como el estudio molecular realizado en él y en su madre, en quienes se encuentra una mutación (c.527insC) en el exón 3 del gen FGD1 (Xp11.21). Las mutaciones referidas hasta la fecha son específicas de un caso particular o familiar. Es importante conocer las diferentes mutaciones encontradas en las distintas poblaciones para intentar establecer una relación genotipo-fenotipo (AU)

The Aarskog-Scott syndrome (SAS) or faciodigitogenital dysplasia was described in 1970 by Aarskog. It is an entity with recessive heredity bond to X with broad genetic heterogeneity as compatible cases are with dominant or semi dominant autosomal transmission bond to X with partial expression in female carriers. We describe a patient with clinical data compatible to the entity and the molecular study performed to him and to his mother in which there is a mutation (c.527insC) in exon 3 of FGD1 gene (Xp11.21). The mutations known up to date are specific of a particular or family case. It is important to know the different mutations identified in different populations to try determining a phenotype-genotype relation (AU)

Evolución del diagnóstico prenatal delas anomalías cromosómicas en Asturias(España). Período 1990-2004 / Prenatal diagnosis trend for chromosomal abnormalities in Asturias (Spain). Period 1990-2004

Fundamento. Evaluar el impacto del diagnóstico prenatal(DP) en las anomalías cromosómicas (AC).Métodos. Durante 15 años (1990-2004) el Registro deDefectos Congénitos de Asturias (RDCA) recogió informaciónsobre AC. El RDCA es un registro de base poblacionalque incluye todos los diagnósticos ya sean abortos, mortinatos,o nacidos vivos hasta los 5 años de edad. Se analizaronlos datos de las AC, particularmente del síndrome deDown, síndrome de Turner, y trisomía 18, y la evolución delDP.Resultados. Se diagnosticaron 356 AC, aumentando elDP con el paso de los años, más en el grupo correspondientea mujeres de 35 años y más (30 % en menores de 35 años entre1990 y 1993, frente a 50 % entre 2002 y 2004; 48 % enmujeres de 35 años y más en el primer período frente a 83%en el segundo). En el síndrome de Down en las mujeres menoresde 35 años entre 2002 y 2004 el DP apenas alcanzó el30 %. En la trisomía 18 y en el síndrome de Turner, el porcentajede DP fue alto, debido principalmente a hallazgosecográficos.Conclusiones. El DP de las AC ha mejorado sus resultadosa lo largo de los 15 años, con una mejoría significativaen el diagnóstico ecográfico, excepto en el síndrome deDown en el grupo de menores de 35 años (AU)

Methods. Over 15 years (1990-2004) the Registro deDefectos Congénitos de Asturias (RDCA) collected informationon CA. The RDCA is a population-based registrythat includes all diagnosed cases whether abortions, stillbirths,or live birth until the age of five. The data obtainedwere analyzed for the CA, particularly for Downsyndrome, Turner syndrome and trisomy 18, and the evolutionof PD.Results. 356 chromosomal abnormalities were diagnosed,the PD increased over the years, especially in womenaged 35 and over (30% under the age of 35 between 1990and 1993, compared with 50% between 2002 and 2004;48% in women aged 35 and over in the first period comparedto 83% in the second). In Down syndrome data in thegroup of women under 35 years in 2002-2004 PD barelyreached 30%. In trisomy 18 and Turner syndrome, the averageof PD was high, mainly due to ultrasound findings.Conclusions. PD on CA has improved its results over15 years, with a significant improvement in the ultrasounddiagnosis, except for Down syndrome in the groupof women under 35 years (AU)

[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

Incontinencia Pigmentaria. Consideraciones odontoestomatológicas: profilaxis y terapéutica / Incontinentia pigmenti. Odontostomtomatologics considerations: prevention and therapeutic

La incontinencia pigmentaria es una rara enfermedad, familiar, transmisión genética ligada al cromosoma X, de aparición casi exclusiva en mujeres, afectación cutánea muy típica y anomalías que afectan al pelo, dientes, ojos, sistema nervioso central, con una importante incidencia en las estructuras estomatognáticas tanto cuantitativa como cualitativamente. Los dientes se ven afectados en el 50-80% de los pacientes. Existe un retraso en la erupción dental, ausencia parcial o total de dientes, formas anormales de los mismos, dientes impactados, mal oclusiones. Por tanto, se considera importante la prevención en estos pacientes insistiendo en la higiene oral, control de caries, revisiones orales periódicas, etc.. Se hace una exposición de las distintas opciones de tratamiento para obtener una armonía, una funcionalidad y estética dental aceptables (AU)

Incontinentia pigmenti is a rare, family disorder of genetic transmisión linked to the X chromosome which appears almost exclusively in females; it causes skin disorders and anomalies that affect hair, teeth, eyes and the central nervous system. Teeth are affected in 50-80% of patients. Patients are late in teething, some or all teeth maybe lacking, those that exist may have malformations, maloclusions. Therefore prevention is of ut most importance in these patients, with special attention given to dental hygiene, control of tooth decay, regular check-ups, etc..The different options for treatment will be examined in order to obtain acceptable dental harmony, functioning and aesthetics (AU)

Estenosis hipertrófica de píloro y macrosomía relativa al nacimiento. Estudio estadístico de 88 casos / Hypertrophic plyoric stenosis and macrosomia regarding birth. Statistical study of 88 cases

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Deleción terminal del 11q (síndrome de Jacobsen) asociada a atresia duodenal con páncreas anular / Deletion 11q23-qter (jacobsen syndrome) associated with duodenal atresia and annular pancreas

El síndrome de Jacobsen es una cromosomopatía infrecuente, causada por una deleción terminal del brazo largo del cromosoma 11. Los principales rasgos clínicos son el retraso psicomotor y del crecimiento, trigonocefalia y dismorfia facial característica, pero existen muchas alteraciones asociadas. Presentamos el caso de un neonato pretérmino con sospecha ecográfica prenatal de atresia duodenal. Al nacimiento presentaba rasgos craneofaciales típicos del síndrome de Jacobsen, equimosis y petequias generalizadas y pies zambos. En el hemograma se objetivó pancitopenia. La ecografía abdominal mostró agenesia renal izquierda y confirmó la atresia duodenal. La tomografía computarizada (TC) cerebral y el electroencefalograma (EEG) fueron normales, así como el estudio cardiológico. En la intervención quirúrgica de la atresia duodenal se observó la presencia de un páncreas anular. El cariotipo fue 46, XY, del (11)(q23.2 qter), con lo cual se confirmó el diagnóstico de síndrome de Jacobsen. Los distintos rasgos clínicos asociados al síndrome de Jacobsen se relacionan con el fragmento cromosómico delecionado. Nuestro paciente presenta atresia duodenal con páncreas anular, manifestación no descrita previamente en la bibliografía (AU)

[Deletion 11q23 --> qter (Jacobsen Syndrome) associated with duodenal atresia and annular pancreas]. / Deleción terminal del 11q (síndrome de Jacobsen) asociada a atresia duodenal con páncreas anular.

Jacobsen syndrome is a rare chromosomal disorder due to terminal 11q deletion. Prominent features are growth and psychomotor retardation, trigonocephaly and a characteristic facial dysmorphism, but many different abnormalities have been reported. We present the case of a preterm male. Prenatal ultrasonography was suspicious for duodenal atresia. At birth, the boy presented the craniofacial features typical of Jacobsen syndrome, together with diffusely spread petechiae and talipes equinovarus. Hemogram revealed pancytopenia. Ultrasound examination showed left renal agenesis and confirmed the duodenal atresia. Cerebral computed tomography scan, electroencephalogram and cardiac studies showed no abnormalities. Annular pancreas was found during surgery to correct the duodenal atresia. The karyotype was 46,XY,del(11)(q23.2 --> qter), which confirmed Jacobsen syndrome.A wide spectrum of clinical features is described in Jacobsen syndrome, with phenotype-karyotype correlation. This is the first report of duodenal atresia and annular pancreas.