Case history
Case history #1
A newborn boy is examined after delivery and found to have a murmur, cryptorchidism, a broad chest with widely spaced nipples, excess nuchal skin, and puffy hands and feet. The family feels that he looks a little different from their first child, with his tall forehead, small chin, and droopy eyelids. An echocardiogram is ordered and reveals pulmonary stenosis with some mild thickening of the ventricular walls.
Case history #2
A 4-year-old girl is referred to her paediatrician because of small stature, some delays in language development, and mild hypotonia. Physical examination reveals height below the third centile and weight at the third centile, while head circumference is at the fiftieth centile. There is cubitus valgus and a broad chest with widely spaced nipples. Speech developed at around age 2 years and is still slightly unclear, although the mother understands most words. Hearing appears clinically normal.
Other presentations
Congenital structural heart defects and hypertrophic cardiomyopathy may present in the antenatal period, the newborn period, or later in childhood. In pregnancy, polyhydramnios (excess of amniotic fluid), increased nuchal translucency, or a cystic hygroma (cystic lymphatic lesion) may be the first signs of Noonan syndrome. Hydrops fetalis (abnormal accumulation of fluid in body cavities) is an occasional finding. Short stature may be present at birth or postnatal in origin. Infants may present with failure to thrive and mild-to-severe feeding problems that usually resolve by 18 months. The facial features of NS are often subtle, but are perhaps most florid in newborns and adolescents. These features are difficult to recognise in adults, and many adults are only diagnosed after the birth of a child with more obvious features.
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