0000000000495352

AUTHOR

D. Vecchio

showing 9 related works from this author

Pain in paediatric hospital units

2007

PEDIATRIC PAIN CHRONIC PAIN ACUTE PAIN
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A case of femoral-facial syndrome in a patient with autism spectrum disorders.

2011

The Femoral hypoplasia - unusual facies syndrome (FHUF) or Femoral - facial syndrome (FFS) was at first described in 1975. Up to now about 60 cases have been reported. According to our knowledge only 4 cases have had congenital central nervous system's malformations, furthermore the main stages of psychomotor development are almost always reported as normal or slightly altered in early childhood. We describe the first case of autism spectrum disorders (ASD) in a patient with FFS, emphasizing that this rare association could be one of many unrecognized underlying features.

Craniofacial AbnormalitiesDiagnosis DifferentialMalePierre Robin SyndromeChild Development Disorders PervasiveChild PreschoolFemoral facial syndromeChild development disorders pervasive Diabetes gestational.HumansAbnormalities MultipleFemurSettore MED/39 - Neuropsichiatria InfantileMinerva pediatrica
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Microcephaly a clinical-genetic and neurologic approach

2013

Settore MED/38 - Pediatria Generale E SpecialisticaMicrocephaly Cognitive Impairment Comparative Genomic Hybridization Magnetic Resonance Imaging
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WIDENING THE SCOPE OF THE 15q13.3 MICRODUPLICATION SYNDROME. PATIENT REPORT AND GENOTYPE-PHENOTYPE CORRELATION.

2015

15q13.3 microduplication syndrome, genomic rearrangment, gentotype-phenotype correlation

Settore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica Medica15q13.3 microduplication syndrome genomic rearrangment gentotype-phenotype correlation
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A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation

2012

Intellectual disability Congenital abnormalities Translocation geneticSettore MED/39 - Neuropsichiatria Infantile
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Green nail syndrome

2014

Settore MED/38 - Pediatria Generale E Specialisticasyndrome nail
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Diagnosis and follow-up of complex congenital malformations/mental retardation (MRA/MR)

2013

Complex congenital malformations, associated in 30% of cases with mental retardation, recognize different etiologies: environmental causes, mendelian disease, chromosomal abnormalities, imprinted anomalies. Frequently complex congenital disorders are rare diseases. Rare diseases are infrequent pathological conditions (prevalence in the general population of less than 1/2.000 live births1), and often poorly understood. Because of their rarity these morbid conditions often either go undiagnosed or are diagnosed late with a negative impact for both the affected person and the family. The birth prevalence is high (2-4% of all births). The diagnosis is essential to program complex and integrated…

Settore MED/38 - Pediatria Generale E SpecialisticaComplex congenital anomalies diagnosis follow-upSettore MED/32 - Audiologia
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X-LINKED INTELLECTUAL DISABILITY

2013

The intellectual disability is found in approximately 2-3% of the population in a mild-to-moderate form and 0.5-1% in a moderate-to-severe form. The mutations on the chromosome X are responsible for both syndromic and non-syndromic intellectual disability. In the syndromic forms behavioral disorders, autism and/or seizures are frequent.

Intellectual disability X-linkedMedicine (all)Dysmorphic featureSyndromic form
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Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism

2012

aCGH, microduplication, autism

aCGH microduplication autism
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