Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. Other signs are occasional like ocular, skeletal, renal and...

We report on two mentally retarded adults with an unbalanced karyotype resulting from a familial balanced translocation between chromosomes 8 and 21, t(8;21)(p21.1;q22.3). This translocation has not been reported before. Both patients had partial trisomy 8p and partial monosomy 21q. Fluorescence in situ hybridisation (FISH) was used to determine the chromosomal breakpoints more precisely. The f...

OBJECTIVES To examine the rate of detection of alprazolam among cases of heroin-related death (HRD) in Victoria, including the relationship between alprazolam supply and HRDs. DESIGN AND SETTING Population-based study of community alprazolam supply in Victoria and HRDs reported to the Victorian coroner from January 1990 to December 2010. MAIN OUTCOME MEASURES Number of prescriptions for alp...

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OBJECTIVE To determine the effect of association of dysembryogenesis (manifested by presence of dysmorphic markers) on the developmental profile of autistic children. METHODS 26 autistic children were classified into complex autism (if they had specific dysmorphic markers) or essential autism (in the absence of dysmorphic markers) using the Miles Autism Dysmorphology Measure (ADM). The develo...

In the Renaissance (1634), Ambroise Paré described for the first time the omphalocele, highlighting the serious prognosis of this malformation. The incidence of omphalocele varies between 1/2000-1/6000 births, both sexes being equally affected. We present the case of a male infant, born at term after a pregnancy that was not followed by the family doctor or by the specialist obstetrician and wh...

Adenylosuccinate lyase deficiency (MIM 103050, ADSL) is a rare autosomal recessive disease causing severe mental retardation and/or autistic features. 2 Seizures are often observed (80%), varying in age of onset (from newborn to late childhood) and nature (tonic-clonic, “suppression burst” pattern, West syndrome, etc), and are very often resistant to all medication. Around 50% of the children s...

Chromosome 1q duplication is one of the rare congenital anomalies accompanied by numerous visceral organ anomalies, dysmorphism, and psychomotor retardation. Our case an 8-year-old male patient with 1q31.3q42.12 trisomy. The was brought to our rehabilitation center because he couldn't able go up down stairs slopes without support also couldn’t run jump. receives physical therapy service for kyp...

Severe Congenital Neutropenia type 4 (SCN4, OMIM 612541) is a rare autosomal recessive disease due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and other anomalies including congenital heart defects, prominent superficial veins, uro-genital anomalies, facial dysmorphism, growth and developmental delay and intermittent thrombocytopenia. In some patient...

We identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. The typical craniofacial dysmorphism included brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and gene...