achondrogenesis


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achondrogenesis

 [ah-kon″dro-jen´ĕ-sis]
a hereditary disorder characterized by hypoplasia of bone, resulting in markedly shortened limbs; the head and trunk are normal.

a·chon·dro·gen·e·sis

(ā-kon'drō-jen'ĕ-sis),
Neonatal lethal dwarfism characterized by severe bone dysplasia of all four limbs, micromelia, enlarged cranium, and a short trunk with delayed or absent ossification of the lower spine and pubic bones. There are various types. See subentries to this term.
[G. a- priv. + chondros, cartilage, + genesis, origin]

achondrogenesis

(ā-kŏn′drō-jĕn′ĭ-sĭs, ə-kŏn′-)
n.
Dwarfism characterized by various bone aplasias and hypoplasias of the extremities and a short trunk with delayed ossification of the lower spine.

a·chon·dro·gen·e·sis

(ā-kon-drō-jen'ĕ-sis)
Dwarfism accompanied by various bone aplasias of all four limbs, a normal or enlarged cranium, and a short trunk with delayed ossification of the lower vertebral column and pelvic bones.
[G. a- priv. + chondros, cartilage, + genesis, origin]
References in periodicals archive ?
In addition to the skeletal findings, achondrogenesis may be indicated by ultrasound findings associated with fetal hydrops (hydrops fetalis).
Numerous publications report achondrogenesis as the second most common lethal short-limbed skeletal dysplasia.
Table 3 Characteristics of Achondrogenesis Affected Bone Type 1 (Parenti-Fraccaro) Type 2 (Langer-Saldina) Skull Poorly ossified Normally well ossified Ribs Thin, with fractures Short, no fractures Vertebrae Not ossified No lumbar ossification Extremities Micromelia Micromelia Ilium Poorly ossified Normally well ossified Pubic/sacrum Absent Poorly ossified References
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type IB homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose.