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.
Highlights
Achondrogenesis is a very rare group of severe disorder that affects cartilage and bone development [1]
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
We report the case of a live term newborn infant with achondrogenesis type II who died shortly after birth
Summary
Achondrogenesis is a very rare group of severe disorder that affects cartilage and bone development [1]. A transition of G2853 to A in axon 41 produced a substitution of Gly769 by Ser within the triple helical domain of the αI(II) chain type II collagen, interrupting the mandatory Gly-X-Y triple sequence required for the normal formation of stable triple helical type II collagen molecules resulting in the complete absence of type II collagen in the cartilage, which had a gelatinous composition [11] This type II collagen is essential for normal development of bones and other connective tissue that form the body’s supportive framework [9]. We reported this case study of a live term newborn infant with achondrogenesis type II
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