Ławicka Marzena, Sawicka Joanna, Bąkowska Grażyna
Long-Term Home Care Services for Mechanically Ventilated Children, Polanki Children's Hospital in Gdańsk, Poland.
Anaesthesiol Intensive Ther. 2013 Jan-Mar;45(1):30-2. doi: 10.5603/AIT.2013.0006.
Haddad syndrome is a rare genetically conditioned disease. We present a female newborn with congenital central hypoventilation syndrome associated with Hirschprung's disease. The infant is mechanically ventilated and parentally fed in a home setting. The diagnosis has been confirmed by the presence of 20/26 PHOX2B genetic mutation.
哈达德综合征是一种罕见的遗传性疾病。我们报告了一名患有先天性中枢性低通气综合征并伴有先天性巨结肠的女性新生儿。该婴儿在家中接受机械通气和肠外营养。通过检测到20/26的PHOX2B基因突变确诊。
