Achondrogenesis

A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.

Micromelia

The presence of abnormally small extremities.


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PMID (PMCID)
29681641
 FEMALE Infant, Newborn
New subtype of familial achondrogenesis type IA (Houston-Harris).
Ramirez-Garcia SA, Garcia-Cruz D, Cervantes-Aragon I, Bitar-Alatorre WE, Davalos-Rodriguez IP, Davalos-Rodriguez NO, Corona-Rivera JR, Sanchez-Corona J.
Cir Cir. 2018;86(1):89-98.
Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death.
23956106
 MIXED_SAMPLE Infant, Newborn
The phenotype range of achondrogenesis 1A.
Grigelioniene G, Geiberger S, Papadogiannakis N, Makitie O, Nishimura G, Nordgren A, Conner P.
Am J Med Genet A. 2013;161A(10):2554-8.
Achondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance.
20387359
 FEMALE Adult
Antenatal diagnosis of achondrogenesis type II.
Kodandapani S, Ramkumar V.
JNMA J Nepal Med Assoc. 2009;48(174):155-7.
Achondrogenesis is a lethal congenital chondrodystrophy characterized by extreme micromelia, small thorax and polyhydramnios.
11069003
(3054684)
 FEMALE
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
Lee HS, Doh JW, Kim CJ, Chi JG.
J Korean Med Sci. 2000;15(5):604-8.
Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia.
8798967
 MALE Infant, Newborn
Achondrogenesis type II (Langer-Saldino)--a case report.
Swar MO, Srikrishna BV.
Afr J Med Med Sci. 1995;24(3):297-9.
Achondrogenesis is a lethal form of congenital chondrodystophy characterised by extreme micromelia.