| Popis: |
Editor—The proband was a male infant born to a 28 year old mother and 24 year old father. The parents were healthy and non-consanguineous. There was no significant family history. The pregnancy was complicated by intrauterine growth retardation. At term, birth weight was 2300 g and bilateral talipes were noted, as were a number of dysmorphic features. These included an enlarged anterior fontanelle with widely spaced sutures, downward slanting palpebral fissures, a flat occiput, a smooth philtrum, prominent nasal bridge, fleshy nasal tip, prominent forehead, and micrognathia (fig 1A). Deep creases were noted on both hands and feet, and the second, third, and fourth fingers of both hands were unusually long (fig 1B, C). The infant suffered from respiratory complications and … |
