Figure 4.50. Brushfield's spots in the eyes of an infant with trisomy 21. These are aggregates of stromal fibers which form a ring around the iris near the limbus. They tend to disappear with age. Brushfield's spots may be seen in normal blue-eyed infants, but if present in infants with brown eyes they are padio-logic. Brushfield's spots are also seen in infants with Zellweger syndrome.
Figure 4.51. The typical square ("boxy") appearance of the ear in an infant with trisomy 21. Abnormalities of die ears are noted in at least 60% of infants with Down syndrome. Typically they are boxy, but they may be low set and small with overlapping of die helix and a prominent anthelix.
Figure 4.52. The typical short stubby fingers, single palmar (simian) crease, and clinodactyly of digit five on the right hand of an infant with trisomy 21. The short stubby fingers resulting in a short broad hand are noted in about 70% of infants with trisomy 21. A single palmar crease may be a normal variant occurring on both hands in 1 to 2% of the population and on one hand in 6%. Clinodactyly is incurving of the finger due to an absent or hypoplastic middle phalanx. Clino-dactyly of the fifth digit is also seen as a normal variant and as a finding in many other syndromes.
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