| Achondrogenesis type 2 | |
|---|---|
 | |
| Achondrogenesis type 2 has an autosomal dominant method of inheritance. | |
| Specialty | Medical genetics |
Achondrogenesis, type 2 is an uncommon skeletal dysplasia that is autosomal dominant and occurs at a frequency of approximately 0.2 per 100,000 births.[1] Also known by the name Langer-Saldino achondrogenesis, it is one of the fatal short-limbed dwarfisms linked to structural mutations in type II collagen.[2]
Typically, achondrogenesis type II manifests in the perinatal period as short stature, edema/hydropic look, narrow chest with pulmonary hypoplasia, severely short limbs (micromelia), and extraskeletal characteristics (e.g., flat midface, Pierre Robin sequence). Most of these babies are stillborn, delivered before their due date, or pass away from cardiorespiratory failure soon after delivery, meaning that they do not live to term.[3]
- ^ "Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias, 5th ed". Radiology. 249 (3): 776. 2008. doi:10.1148/radiol.2493082537. ISSN 0033-8419.
- ^ Saldino, Ronald M. (1971). "Lethal Short-Limbed Dwarfism: Achondrogenesis and Thanatophoric Dwarfism". American Journal of Roentgenology. 112 (1): 185–197. doi:10.2214/ajr.112.1.185. ISSN 0361-803X. PMID 5582025.
- ^ Gregersen, Pernille Axél; Savarirayan, Ravi (2019-04-25). "Type II Collagen Disorders Overview". University of Washington, Seattle. PMID 31021589. Retrieved 2024-02-25.