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Citation:
Niknejad M, Jones J, Bell D, et al. Achondrogenesis 1A. Reference article, Radiopaedia.org (Accessed on 28 Mar 2024) https://doi.org/10.53347/rID-22076
Achondrogenesis type Ia, also known as the Houston-Harris subtype, is a subtype of achondrogenesis. It is an extremely rare lethal skeletal dysplasia (chondrodysplasia) with a characteristic severe disarrangement of endochondral ossification.
Some of the common clinical features include:
- low birth weight
- skeletal abnormalities
- very short limbs
- short neck
- incomplete ossification of bones - particularly the skull
- congenital cardiac anomalies
- breathing problems
- small chest
- underdeveloped lungs
- protuberant abdomen
The growth plate cartilage completely lacks columnar-zone formation and shows chondrocyte expansion due to intracellular vacuoles.
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2. Raphael Rubin, David S. Strayer, Emanuel Rubin et al. Rubin's Pathology. (2008) ISBN: 9780781795166 - Google Books
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3. Corsi A, Riminucci M, Fisher L, Bianco P. Achondrogenesis Type IB: Agenesis of Cartilage Interterritorial Matrix as the Link Between Gene Defect and Pathological Skeletal Phenotype. Arch Pathol Lab Med. 2001;125(10):1375-8. doi:10.5858/2001-125-1375-ATI - Pubmed
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4. Borochowitz Z, Lachman R, Adomian G, Spear G, Jones K, Rimoin D. Achondrogenesis Type I: Delineation of Further Heterogeneity and Identification of Two Distinct Subgroups. J Pediatr. 1988;112(1):23-31. doi:10.1016/s0022-3476(88)80113-6 - Pubmed
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