Autism is a heterogeneous neurodevelopmental syndrome with a complex genetic etiology. It is still not clear whether autism comprises a vast collection of different disorders akin to intellectual disability or a few disorders sharing common aberrant pathways. Unifying principles among cases of autism are likely to be at the level of brain circuitry in addition to molecular pathways.

Sneddon syndrome is a rare, progressive disease that affects relatively young people, mainly female, and manifests itself in two main symptoms: livedo reticularis recurrent cerebral infarctions. First described 1965 by the English dermatologist Ian Bruce Sneddon, named his honor unites heterogeneous group of diseases with different pathogenesis similar clinical manifestations. Skin manifestatio...

Pseudotumor cerebri syndrome (PTCS) is defined by the presence of elevated intracranial pressure (ICP) in the setting of normal brain parenchyma and cerebrospinal fluid (CSF) composition. Presenting signs and symptoms are heterogeneous, but usually include headache, visual disturbances (i.e., vision loss or double vision), and papilledema at the

Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old boy.

Common variable immunodeficiency (CVID) refers to a heterogeneous immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections and a variety of immunological abnormalities. Affected persons are prone to recurrent bacterial infections, especially involving the upper and lower respiratory tracts. In addition, patients exhibit increased susceptibility to a prote...

Left ventricular hypoplasia complicates other forms of congenital heart disease in addition to the classic ‘‘hypoplastic left heart syndrome.’’ Within this heterogeneous group, subtle anatomic differences determine surgical management and ultimate prognosis. Thus, an individualized approach is necessary to optimize outcomes in this complex population.

Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in PTPN11. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would not have been made from phenotype alone.

Mild cognitive impairment (MCI) is a common heterogeneous syndrome that in some cases is transitional between normal age-related cognitive changes and dementia. Identifying it early may lead to prompt recognition of reversible causes and allows for timely future planning. This article describes definitions of MCI and its evaluation, differential diagnosis, and management.

We report the prenatal sonographic diagnosis of hydrometrocolpos caused by an imperforate hymen in a Down syndrome fetus, with spontaneous evacuation on the third day of life. In this case, sonographic evaluation in the 37th week revealed a large retrovesical, sharply marginated, heterogeneous, unilocular cystic structure within the fetal abdomen extending to the left side of the umbilicus.

Guillain-Barré syndrome is an autoimmune disorder encompassing a heterogeneous group of pathological and clinical entities. Antecedent infections are thought to trigger an immune response, which subsequently cross reacts with nerves leading to demyelination or axonal degeneration. Both intravenous immunoglobulin treatment and plasma exchange have been found to be equally beneficial. Several fac...