TITLE:
Achondrogenesis Type II in a Live Term Newborn Infant: A Case Report
AUTHORS:
Mustapha Bello, Tope Bello, Ahmadu Baba Usman, Adzu Yusuf, Simon Pius, Harifarta Difirwiti, Yakubu Sani
KEYWORDS:
Achondrogenesis Type II, Lethal Malformation, Live Born Infant
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.8 No.1,
March
9,
2018
ABSTRACT: Background: Achondrogenesis type II is a lethal form of
osteochondrodysplasia characterized by short trunk, disproportionately large
head, prominent forehead, micrognathia, extreme micromelia, anasarca, large
abdomen and poor ossification of the bones. The
children with achondrogenesis are usually born premature, or die in the
neonatal period mostly from respiratory failure. We report the case of a live
term newborn infant with achondrogenesis type II who died shortly after birth. Methods: We report a case of achondrogenesis type II in a live male newborn. Results: We
report the case of a term male infant delivered to a 24-year-old woman with a
chondrogenesis type II confirmed radiologically but died at age 5 days. Conclusion: Whenever a skeletal dysplasia in a fetal dwarfism is
suspected, a proper work-up plan should be done to evaluate family history. A
clinical, radiographic and histopathologic examination, should be done and
confirmed by genetic study. Following evidence-based diagnosis, patients could
be offered termination of pregnancy after counseling.