LETHAL CASE OF PARROT ACHONDROPLASIA IN A NEWBORN BOY

Abstract

Achondroplasia is an inherited monogenic disease from the group of osteochondroplasia with defects of tubular bones and axial skeleton characterized by autosomal-dominant type of heredity with complete penetrance. Occurrence of the disease in the world is 0,4:10000, and in European population – 2:10000 of neonates. In 99% cases achondroplasia is caused by mutations of G380R gene FGFR3, located on a short arm of the fourth chromosome (locus 4p16.3). Missense mutations in FGFR3 gene are the most frequent associated with changes of glycine into arginine in the protein coding the receptor of fibroblast growth factor responsible for proliferation of cartilages in joints of the long bones. The article presents the original case of observation of a child with achondroplasia with lethal outcome. The boy was born preterm on the 35th week of pregnancy with 2460 g of body weight, and body length was 36 cm. Physical examination determined the phenotypic signs of Parrot achondroplasia. The boy’s condition at birth and during his life was assessed as severe due to manifestation of multiple organ failure syndrome against the ground of lung hypoplasia and hydrocephaly with gradual decompensation of vital functions resulting in lethal outcome at the age of 1 month and 24 days. Prenatal screening determined maternal decreased levels of β-chorial human gonadotropin on the 10th week of gestation and α-fetoprotein – on the 17th week of gestation; ultrasound examination diagnosed multiple developmental defects of the muscular-skeletal system. The woman refused from invasive examination and interruption of pregnancy at all the stages of examination and consulting. Medical-genetic examination of the child was not performed due to considerable severity of disorders of his general condition. The necessity to give neonatal palliative care to neonates with critical congenital developmental defects has been discussed.