2 research outputs found
Clinical Observation of a Child with KID (Keratitis-Ichthyosis-Deafness) Syndrome
A clinical case of keratitis-ichthyosis-deafness (KID syndrome) in an infant is described. The article familia-rizes pediatricians and family doctors with difficulties in the diagnosis of this rare genetic disease in infants
Clinical Observation of a Child with Down Syndrome and Glucose and Galactose Malapsorbtion Syndrome
The article deals with a clinical case of primary glucose and galactose malabsorption syndrome in a child with Down syndrome. Difficulty in diagnosis of glucose and galactose malabsorption syndrome in this observation is due to a combination of this disease with other genetic pathology. The article introduces pediatricians and family doctors to the possible comorbidities of various congenital nosological forms