Thanatophoric dysplasia

Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape.

Bifid tongue

Tongue with a median apical indentation or fork.


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PMID (PMCID)
19014058
FEMALE Young Adult
Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.
Orhan D, Balci S, Deren O, Utine EG, Basaran A, Kale G.
Turk J Pediatr. 2008;50(4):395-9.
In this report, we present a 24-week-old female fetus with a possible prenatal diagnosis of thanatophoric dysplasia in whom postmortem examination revealed lethal type Larsen-like syndrome associated with bifid tongue, severe micrognathia and non-immune hydrops fetalis.