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Down syndrome phenotype is the most distinctive physical appearance associated with an atrioventricular septal defect.73,258,400,414 In 1866 Down wrote, "The face is flat and broad and destitute of prominence. The cheeks are round and extended laterally. The eyes are obliquely placed, and the internal canthi more than normally distant from one another. The palpebral fissure is very narrow. The lips are large and thick with transverse fissures. The tongue is long, thick, and is much roughened. The nose is small."228 The incidence of trisomy 21 in the general population is approximately 1:800 live births, although the frequency is twice as great if based on all conceptuses because more than half of trisomy 21 fetuses are spontaneously aborted.400 The association of congenital heart disease with Down syndrome was recognized in 1894 by Garrod179 and in 1924 by Maude Abbott.1 The incidence is about 50% compared with an incidence of 0.4% for infants with normal chromosomes. Complete atrioventricular septal defect accounts for two thirds of the congenital heart disease in Down syndrome.73,400

The phenotypic features of Down syndrome are numerous. The anteroposterior diameter of the skull is shortened. The inner epicanthic skin fold that inserts onto the lower lid may be prominent at birth (Fig. 15-91A). In Asian children with trisomy 21, the typical Down inner canthal fold is readily identified together with the normal Asian horizontal epicanthic fold above the outer canthus (Fig. 15-91B).146 Brushfield spots (speckled iris) are distinctive ocular features that were described by Down228 as a

Brushfield Spots Images Trisomy

Figure 15-91

A, Brushfield spots (speckled iris, large paired arrows) readily seen in a blue-eyed female with Down syndrome. The typical inner epicanthic fold (small upper left arrow) inserts onto the lower lid. B, A 17-month-old Asian girl with Down syndrome. Two arrows on the left identify the typical inner epicanthic fold of Down syndrome. The single vertical arrow on the right identifies the normal horizontal Asian epicanthic fold above the outer canthus. Brushfield spots are not visible because the irises were dark brown.

Figure 15-91

A, Brushfield spots (speckled iris, large paired arrows) readily seen in a blue-eyed female with Down syndrome. The typical inner epicanthic fold (small upper left arrow) inserts onto the lower lid. B, A 17-month-old Asian girl with Down syndrome. Two arrows on the left identify the typical inner epicanthic fold of Down syndrome. The single vertical arrow on the right identifies the normal horizontal Asian epicanthic fold above the outer canthus. Brushfield spots are not visible because the irises were dark brown.

fine white spots at the periphery of the iris readily seen in patients with blue-gray iris (Fig. 15—91 A) but not in patients with dark brown iris.146 The nose is small, the nasal bridge is depressed, and the nares are anteverted and narrow The ears are low-set with overlapping or folding of the helix. The lips are prominent, thickened, and fissured, and the tongue is large and protuberant (Fig. 15-90A). The corners of the mouth turn down as a child's drawing of a sad face (Fig. 15-90B). The skin in infants is soft and velvety but in childhood the skin is dry, pale, and lax. Neonates have abundant skin and subcutaneous tissue in the posterior neck and exhibit absence of the Moro reflex. The hips can spontaneously dislocate between ages 2 and 10 years (Fig. 15-92B). The thoracic configuration reflects hyperinflation, and the abdomen tends to be protuberant because of reduced muscle tone and diastases recti. The hands are broad and stubby with a short curved fourth finger, a single transverse palmar crease (Fig. 15-92A) and a distal axial triradius. Short stubby feet are as common as short stubby hands.

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