Achondrogenesis Type II in a Live Term Newborn Infant: A Case Report

Autor:	Simon Pius, Adzu Yusuf, Yakubu Sani, Harifarta Difirwiti, Ahmadu Baba Usman, Tope Bello, Mustapha Bello
Rok vydání:	2018
Předmět:	Pediatrics medicine.medical_specialty Pregnancy Achondrogenesis Ossification business.industry medicine.disease Osteochondrodysplasia Anasarca Respiratory failure Micromelia medicine medicine.symptom Family history business
Zdroj:	Open Journal of Pediatrics. :58-65
ISSN:	2160-8776 2160-8741
DOI:	10.4236/ojped.2018.81008
Popis:	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.
Databáze:	OpenAIRE
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