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1.
J Cutan Pathol ; 51(7): 485-489, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38549288

RESUMEN

We described an unusual combination of fibroblastic connective nevus (FCTN) already present at birth with underlying vascular anomalies. Overall, the lesion appeared as a large purplish-brown mass in the groin region up to the third of the right thigh, with partial spontaneous regression during the first three months of life. The FCTN observed exhibited several unusual characteristics: it was congenital, large in size, and located in the lower limbs. Finally, it represented the first case described in which an FCTN arose in association with vascular anomalies.


Asunto(s)
Nevo , Neoplasias Cutáneas , Humanos , Neoplasias Cutáneas/patología , Nevo/patología , Malformaciones Vasculares/patología , Masculino , Femenino , Recién Nacido , Lactante
2.
Ultrasound Obstet Gynecol ; 60(4): 494-498, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35274783

RESUMEN

OBJECTIVE: To describe the long-term outcome of children with prenatally diagnosed isolated complete agenesis of the corpus callosum (cACC). METHODS: In this single-center case series, we reviewed retrospectively the charts of fetuses referred to our fetal therapy unit from January 2004 to July 2020 for a suspected anomaly of the corpus callosum (CC). Cases with prenatally diagnosed isolated cACC were included. Fetal karyotype and comparative genomic hybridization microarray of amniotic fluid, in addition to fetal magnetic resonance imaging, were offered to all pregnant women with a diagnosis of fetal CC malformation. The surviving children were enrolled in the neurodevelopmental follow-up program at our institution, which included postnatal magnetic resonance imaging, serial neurological examinations and neurodevelopmental evaluations with standardized tests according to age. Families living in remote areas or far from our institution were offered a structured ad-hoc phone interview. RESULTS: A total of 128 pregnancies with fetal CC malformation were identified (mean gestational age at diagnosis, 24.5 (range, 21-34) weeks), of which 53 cases were diagnosed prenatally with apparently isolated cACC. Of these, 12 cases underwent termination of pregnancy, one resulted in intrauterine demise at 24 weeks of gestation and 13 cases were lost to follow-up. Of the remaining 27 children, one was excluded due to an associated chromosomal anomaly (8p21.3q11.21 mosaic duplication) diagnosed after birth, which could have been detected prenatally if the parents had consented to amniocentesis. In the 26 children included in the analysis, neurodevelopmental follow-up was available for a median of 3 (range, 1-16) years. Three (11.5%) infants had severe neurodevelopmental impairment, two of which were diagnosed postnatally with a genetic syndrome (Mowat-Wilson syndrome and Vici syndrome) that would not have been diagnosed prenatally. Seven (26.9%) children had mild neurodevelopmental impairment and 16 (61.5%) had normal neurodevelopmental outcome. The Full-Scale Intelligence Quotients of the three children with severe neurodevelopmental impairment were 50, 64 and 63, respectively, while that of the remaining children was in the normal range (median, 101; range, 89-119). CONCLUSIONS: In 88% of the children with cACC included in this study, neurodevelopment was not severely impaired. However, long-term follow-up is recommended in all cases of congenital isolated cACC to recognize subtle neurodevelopmental disorders as early as possible. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.


Asunto(s)
Agenesia del Cuerpo Calloso , Cuerpo Calloso , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Agenesia del Cuerpo Calloso/genética , Canales de Cloruro/genética , Hibridación Genómica Comparativa , Cuerpo Calloso/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Ultrasonografía Prenatal
3.
Eur J Paediatr Neurol ; 28: 110-119, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32800423

RESUMEN

INTRODUCTION: Cri-du-Chat Syndrome (CdCS) is a genetic condition due to deletions showing different breakpoints encompassing a critical region on the short arm of chromosome 5, located between p15.2 and p15.3, first defined by Niebuhr in 1978. The classic phenotype includes a characteristic cry, peculiar facies, microcephaly, growth retardation, hypotonia, speech and psychomotor delay and intellectual disability. A wide spectrum of clinical manifestations can be attributed to differences in size and localization of the 5p deletion. Several critical regions related to some of the main features (such as cry, peculiar facies, developmental delay) have been identified. The aim of this study is to further define the genotype-phenotype correlations in CdCS with particular regards to the specific neuroradiological findings. PATIENTS AND METHODS: Fourteen patients with 5p deletions have been included in the present study. Neuroimaging studies were conducted using brain Magnetic Resonance Imaging (MRI). Genetic testing was performed by means of comparative genomic hybridization (CGH) array at 130 kb resolution. RESULTS: MRI analyses showed that isolated pontine hypoplasia is the most common finding, followed by vermian hypoplasia, ventricular anomalies, abnormal basal angle, widening of cavum sellae, increased signal of white matter, corpus callosum anomalies, and anomalies of cortical development. Chromosomal microarray analysis identified deletions ranging in size from 11,6 to 33,8 Mb on the short arm of chromosome 5. Then, we took into consideration the overlapping and non-overlapping deleted regions. The goal was to establish a correlation between the deleted segments and the neuroradiological features of our patients. CONCLUSIONS: Performing MRI on all the patients in our cohort, allowed us to expand the neuroradiological phenotype in CdCS. Moreover, possible critical regions associated to characteristic MRI findings have been identified.


Asunto(s)
Encéfalo/diagnóstico por imagen , Encéfalo/patología , Síndrome del Maullido del Gato/diagnóstico por imagen , Síndrome del Maullido del Gato/patología , Adolescente , Adulto , Niño , Preescolar , Síndrome del Maullido del Gato/genética , Femenino , Estudios de Asociación Genética , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética/métodos , Masculino , Adulto Joven
4.
Clin Genet ; 88(5): 431-40, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25388907

RESUMEN

The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases). Herein, we report the clinical and the genetic data taken from a cohort of 46 RSTS patients, all carriers of CREBBP point mutations. Molecular analysis revealed 45 different gene alterations including 31 inactivating (21 frameshift and 10 nonsense), 10 missense and 4 splicing mutations. Bioinformatic tools and transcript analyses were used to predict the functional effects of missense and splicing alterations. Of the 45 mutations, 42 are unreported and 3 were described previously. Recurrent mutations maybe a key tool in addressing genotype-phenotype correlations in patients sharing the same defects (at the genomic or transcript level) and specific clinical signs, demonstrated here in two cases. The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously overlooked in RSTS diagnosis, now could be considered. Some suggested correlations between organ-specific anomalies and affected CREB-binding protein domains broaden the RSTS clinical spectrum and perhaps will enhance patient follow-up and clinical care.


Asunto(s)
Proteína de Unión a CREB/genética , Fenotipo , Mutación Puntual , Síndrome de Rubinstein-Taybi/metabolismo , Adolescente , Adulto , Secuencia de Aminoácidos , Niño , Preescolar , Simulación por Computador , Análisis Mutacional de ADN , Femenino , Genotipo , Humanos , Lactante , Recién Nacido , Masculino , Datos de Secuencia Molecular , Síndrome de Rubinstein-Taybi/diagnóstico , Síndrome de Rubinstein-Taybi/genética , Alineación de Secuencia , Adulto Joven
6.
Clin Dysmorphol ; 13(4): 255-256, 2004 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-15365464

RESUMEN

We describe a female affected by diaphragmatic hernia and nasopharyngeal teratoma. The case is compared with one already reported and possible diagnoses discussed. These cases appear to represent a new syndrome.


Asunto(s)
Hernia Diafragmática/fisiopatología , Neoplasias Nasofaríngeas/fisiopatología , Teratoma/fisiopatología , Anomalías Craneofaciales/fisiopatología , Femenino , Humanos , Recién Nacido , Síndrome
7.
Prenat Diagn ; 24(7): 508-12, 2004 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-15300740

RESUMEN

OBJECTIVES: Fetal face malformations represent one of the most challenging prenatal diagnoses mainly because of the wide range of morphological features involved. We tested an approach based on a combination of conventional two-dimensional ultrasound with the more recent three-dimensional technique plus magnetic resonance imaging, in order to improve parents' understanding of fetal face anomalies, thereby facilitating parent counselling. METHODS: Two cases of fetal facial anomaly were studied using these combined techniques; one had severe micrognathia and malformation of the ears with preauricular tags, while the other had bilateral dacryocystocele and severe hypertelorism. RESULTS: The images generated by three-dimensional ultrasound enabled the parents to visualize their child immediately and helped them to adjust to the diagnosis of facial defects and its clinical consequences. CONCLUSIONS: An approach based on combined use of different imaging techniques was found useful in both cases.


Asunto(s)
Anomalías Congénitas/diagnóstico , Cara/anomalías , Imagen por Resonancia Magnética , Ultrasonografía Prenatal , Adulto , Anomalías Congénitas/diagnóstico por imagen , Anomalías Congénitas/embriología , Oído Externo/anomalías , Oído Externo/diagnóstico por imagen , Oído Externo/embriología , Cara/diagnóstico por imagen , Cara/embriología , Femenino , Humanos , Hipertelorismo/diagnóstico , Hipertelorismo/diagnóstico por imagen , Hipertelorismo/embriología , Imagenología Tridimensional , Hibridación Fluorescente in Situ , Recién Nacido , Aparato Lagrimal/anomalías , Aparato Lagrimal/diagnóstico por imagen , Aparato Lagrimal/embriología , Imagen por Resonancia Magnética/métodos , Masculino , Micrognatismo/diagnóstico , Micrognatismo/diagnóstico por imagen , Micrognatismo/embriología , Nariz/anomalías , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal
8.
Genet Couns ; 8(1): 39-42, 1997.
Artículo en Inglés | MEDLINE | ID: mdl-9101277

RESUMEN

We report a case on a female newborn child with a deletion of the 4q33qter region. The patient showed facial dysmorphisms, cleft palate and congenital cardiac defect. In order to contribute to a better definition of the 4q33qter deletion syndrome we have compared the clinical findings of our patient with those in nine reported cases. The characteristic symptoms of these patients seem to be: mental retardation, upper slanting of the palpebral fissures, depressed nasal bridge, low set/dysplastic ears, cleft palate, micrognathia, dysmorphic hands and feet.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 4 , Discapacidad Intelectual/genética , Femenino , Humanos , Cariotipificación
9.
Pediatr Med Chir ; 6(3): 439-42, 1984.
Artículo en Italiano | MEDLINE | ID: mdl-6533592

RESUMEN

A case of Kawasaki disease, the first in Umbria (at time of diagnosis), is presented, as furthermore contribution to previously reported cases. The authors discuss the clinical and laboratory findings which have mostly characterized the disease interesting a 8-years-old girl.


Asunto(s)
Síndrome Mucocutáneo Linfonodular/diagnóstico , Niño , Femenino , Humanos , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/patología
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