The debate about the psychopathological nature of body dysmorphia and delusion-like thought in anorexia nervosa is still open. The intensity and the stability of the misperception of body shape and of the thought distortions related to weight gains which are present in many subjects affected with anorexia nervosa supports a parallelism between these symptoms and the psychotic symptoms which are...

Chromatin remodeling through histone acetyltransferase (HAT) and histone deactylase (HDAC) enzymes affects fundamental cellular processes including the cell-cycle, cell differentiation, metabolism, and apoptosis. Nonsense mutations in genes that are involved in histone acetylation and deacetylation result in multiple congenital anomalies with most individuals displaying significant developmenta...

Bone morphogenetic protein (BMP) receptor type 1A (BMPR1A) mutations are associated with facial dysmorphism, which is one of the main clinical signs in both juvenile polyposis and chromosome 10q23 deletion syndromes. Craniofacial development requires reciprocal epithelial/neural crest (NC)-derived mesenchymal interactions mediated by signaling factors, such as BMP, in both cell populations. To ...

Chromosomal aberrations are a common cause of multiple anomaly syndromes that include growth and developmental delay and dysmorphism. Novel high resolution, whole genome technologies, such as array based comparative genomic hybridisation (array-CGH), improve the detection rate of submicroscopic chromosomal abnormalities allowing re-investigation of cases where conventional cytogenetic technique...

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His...

Seckel Syndrome (SS) is a rare form of primordial autosomal recessive dwarfism involving multiple malformations. The major characteristic features of SS are intrauterine and postnatal growth deficiency, severe microcephaly, craniofacial dysmorphism which includes characteristic ‘Bird-headed’ appearance, prominent nose, sloped forehead, receding jaw, low-set ears with hypoplastic lobules and lar...

INTRODUCTION Dysmorphic red blood cells (RBCs) in the urine are a strong indicator of a glomerular bleeding source. RBC casts, which while generally following RBC dysmorphism are not frequently seen on routine urinalysis, are also important indicators of glomerular hematuria. OBJECTIVE This study tested the superiority of a urine concentration technique (CT) over the standard method (SM) for ...

Description A 10 year old female, born of third degree consanguinity was referred for abnormal skeletal findings and suspected arthritis. On examination she had camptodactyly of all digits. Facial dysmorphism, camptodactyly, skeletal findings and subnormal intelligence were suggestive of the Guadalajara Syndrome. Facial dysmorphism (midfacial hypoplasia, hypertelorism, long neck, small, posteri...

SATB2-associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of 12 individuals with 10 unique (de novo in 11 of 11 tested) pathogenic variants (1 splice site, 5 frameshift, 3 nonsense, and 2 missense) in SATB2 and review all cases reported in the published literature caused by point alterations thus far. In the cohor...