Extremely rare. Dwarfism with generalized severe shortening of the limbs (micromelia) associated with a small trunk and an abnormally large skull.  Lethal bone disease either in utero or a few days after birth. It is the second constitutional lethal bone disease after thanatophore dwarfism or dystrophy (see this term). 

Depending on the genetic origin, different types have been identified:

• Type IA: Houston-Harris type achondogenesis [MIM 200 600]: autosomal recessive transmission of a mutation of the TRIPP11 gene (14q32.12)
• Type IB: Fraccaro type achondrogenesis [MIM 600 972]: autosomal recessive transmission of a mutation of the DTDST gene or SLC26A2 (5q31-q34)
• Type II: Langer-Saldino achondrogenesis or chondrogenesis imperfecta [MIM 200 610]. De novo and dominant transmission of a mutation of the COL2A1 gene(12q13.1-q3)

Clinical presentation: newborn with very short limbs, a protruding abdomen and fatty appearance due to excess soft tissue compared to the skeleton. The skull appears disproportionate in comparison to the body. Prominent forehead, flat face, frequent cleft palate and short neck.

Differential diagnosis with other lethal osteochondrodysplasias is sometimes difficult.

Anesthetic implications:

risk of difficult mask ventilation and intubation, difficult peripheral venous access, restrictive syndrome.

References :

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Updated: July 2022