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The most common finding in a newborn with Down syndrome is hyp | Paediatrics videos & books

The most common finding in a newborn with Down syndrome is hypotonia. Other common findings include single palmar crease, flat facial profile, macroglossia, and wide space between the first and second toes. Hypotonia in the newborn period should prompt close evaluation and follow-up. Café au lait spots are associated with neurofibromatosis. High arched palates are associated with fragile X syndrome. Ambiguous genitalia are commonly seen in CAH.(Jones, 1997, pp. 8–13) Children with Down syndrome are at an increased risk for hypothyroidism. It may be hard to detect without routine laboratory screening as they will commonly have mental retardation and developmental delay as part of their syndrome. Hypothyroidism may not be present in the immediate newborn period and requires, at a minimum, annual testing throughout the child’s life. The other findings listed are not specifically associated with Down syndrome. Lens dislocation is commonly found with Marfan syndrome or homocysteinuria. (Jones, 1997, pp. 8–13) Children with Down syndrome have an increased prevalence of duodenal atresia. Pyloric stenosis is uncommon to see in the newborn period. It tends to present with nonbilious vomiting usually after 2–4 weeks of age. Hirschsprung disease (aganglionosis coli) presents with constipation and failure to pass stool. Infants with Hirschsprung disease commonly will not pass stool in the first days of life. Biliary atresia is a progressive cause of jaundice in an infant. It is the most common cause of a cholestatic jaundice in the newborn period. Emesis is not typically associated with biliary atresia. Milk protein allergy is a common cause of bloody stools in the first few months of life, but does not have bilious emesis associated with it. The double-bubble sign is typically seen in duodenal atresia. It represents gas in the stomach and the first part of the duodenum. This finding can also be seen in children with malrotation with a midgut volvulus. A midgut volvulus may also have bilious emesis as well, but malrotation is not specifically associated with Down syndrome. Pneumatosis intestinalis is the radiographic appearance of dissected air in the intestinal wall. It is seen in necrotizing enterocolitis (NEC). Scimitar sign is seen on CXR and is indicative of anomalous pulmonary veins. (Rudolph et al., 2003, p. 203) The mean IQ of children with Down syndrome is 50 (the average is 20–85). Children with Down syndrome are not at greater risk of CNS malformations. There is not an increased presence of calcifications or of aneurysms. Five percent of children with Down syndrome can have a seizure disorder, making it a less common finding than mental retardation. Hydrocephalus is not increased in children with Down syndrome.