Presenting Autori Titolo Affiliazione Città ADAMI GIOVANNI GIOVANNI. ADAMI(1), ANGELO. FASSIO(1), CAMILLA. BENINI(1), OMBRETTA. VIAPIANA(1), EUGENIA. BERTOLDO(1), DAVIDE. GATTI(1), MAURIZIO. [reumatologia.it]

Microcephaly is present in all affected individuals. The incidence of structural brain abnormalities is not known as brain imaging is not required to establish the diagnosis. [ncbi.nlm.nih.gov]

• Arachnodactyly

  Arachnodactyly and tapering fingers are characteristic. Clubfoot and joint contractures can be congenital or develop later in life. [ncbi.nlm.nih.gov]

• Coarctation of the Aorta

  Heart defects include atrial septal defect, ventricular septal defect, tetralogy of Fallot, truncus arteriosus, tricuspid atresia, coarctation of the aorta, aberrant subclavian artery, persistent left superior vena cava, and patent ductus arteriosus. [ncbi.nlm.nih.gov]

• Suggestibility

  Diagnosis Suggestive Findings Emanuel syndrome should be suspected in individuals with the following clinical features: Severe intellectual disability Microcephaly Failure to thrive Preauricular tag or pit Ear anomalies Cleft or high-arched palate Micrognathia [ncbi.nlm.nih.gov]

• Small Scrotum

  Males often have cryptorchidism, small scrotum, and micropenis. Uterine malformations can occasionally be observed in females. Gastrointestinal. Diaphragmatic hernia and hypoplasia or eventration of the diaphragm have been observed. [ncbi.nlm.nih.gov]

• Renal Insufficiency

  Significant mortality is associated with life-threatening congenital malformations such as congenital heart defects, diaphragmatic hernia, or renal insufficiency. The highest mortality rate is in the first months of life. [ncbi.nlm.nih.gov]

Assessments of individual systems, such as the cardiovascular, gastrointestinal, orthopedic, and neurological, may be necessary to determine the extent of impairment and options for treatment. [en.wikipedia.org]

Other Patients and their families should be informed regarding natural history, treatment, mode of inheritance, genetic risks to other family members, and consumer-oriented resources. [ncbi.nlm.nih.gov]

COMPARATIVE EVALUATION WITH PRE-TREATMENT DISEASE ONSET IN ACPA POSITIVE AND ACPA NEGATIVE DISEASE. DIVISION OF RHEUMATOLOGY, UNIVERSITÀ DI PAVIA, IRCCS POLICLINICO SAN MATTEO DI PAVIA PAVIA BRUNI COSIMO COSIMO. BRUNI(1), ALEXANDRU. [reumatologia.it]

SEBASTIANI(1) COVID-19 PROGNOSIS IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS IS NOT DIFFERENT FROM RHEUMATOID ARTHRITIS AND SPONDYLOARTHRITIS: RESULTS FROM THE CONTROL-19 STUDY BY THE ITALIAN SOCIETY FOR RHEUMATOLOGY UOC REUMATOLOGIA, AO S. [reumatologia.it]

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum Mol Genet. 2000;9:1665–70. [PubMed: 10861293] Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. [ncbi.nlm.nih.gov]

Prevention of secondary complications: Attention to the airway during sedation and/or operative procedures in an institution with pediatric anesthesiologists. [ncbi.nlm.nih.gov]