Trisomy 18 (Edwards syndrome) is a chromosomal abnormality. It is characterized growth retardation, microcephaly, microphthalmia, ocular hypertelorism, ptosis, microstomia, distinctively clenched fingers and other congenital malformations. In utero, the patients present with heart defects, central nervous system…
Children with Cornelia de Lange syndrome often present with unusual facial features that develop within a few weeks to months after birth. There is slowed growth combined with development of several other abnormalities which have been described below: Children with CdLS present with distinct facial features…
Familial dysautonomia is a genetic disorder that affects development and survival of sensory and autonomic neurons. FD manifests in early childhood, but the severity of symptoms varies greatly. Parents report that their infants have dysphagia, excess drooling, blunted swallowing reflexes, and frequent vomiting .…
Down syndrome is the most common and best known chromosomal disorder in humans. It is typically associated with mental retardation, developmental delays and a particular set of facial characteristics. The three genetic variations that can cause Down syndrome include: Trisomy 21, mosaic Down syndrome and…
Additionally, these patients may exhibit the skin finding known as livedo reticularis, which is indicative of small vessel occlusion. … General Fever Fatigue Low appetite Weight loss Muscle pain Skin Livedo reticularis Blue toe syndrome Purpura, ulcers, gangrene Heart High blood pressure Rapid heart rate Heart … reticularis, blue toe syndrome, and digital gangrene are among the diagnostic criteria for cholesterol embolism syndrome.
Rash, gangrene, cutaneous infarcts, nodules and livedo reticularis may be seen as manifestations of skin involvement. … 
Kawasaki disease (Kawasaki syndrome, mucocutaneous lymph node syndrome) is a systemic vasculitis of unknown etiology that primarily affects infants and children. Symptoms include a fever lasting more than 5 days, macular-papular erythematous rash, adenopathy, bilateral conjunctival injection and swelling of the…
Amebic liver abscess results as a complication of an amebic infection. It is diagnosed through evaluation of clinical and epidemiologic factors as well as serologic and possibly imaging studies. Amebic liver abscess is a complication of amebiasis, which is transmitted via the feco-oral route through infected humans. The…