Facial appearance suggestive of Down syndrome

A newborn girl Ella Stevens, born at 37 weeks gestation, was referred because of a facial appearance suggestive of Down syndrome. She was the second child of the couple. A female sibling was well. The mother had one prior, early spontaneous miscarriage. The remainder of the family history was not contributory and there was no consanguinity. Birth weight was 3032 g. Head circumference 34 cm. Length – 47 cm. Although the facial appearance was suggestive of Down syndrome, it was not as striking as usual. Hypotonia of muscles. A murmur was diagnosed as a 2 mm atrial septal defect (ASD). At 10 months, her weight is 7.7 kg, Length is 68.8 cm. She can sit independently, briefly, has not yet crawling and has two recognizable words.