Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.
Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported. A lethal form of Larsen syndrome (Larsen-like syndrome) has been described as a combination of the Larsen phenotype and pulmonary hypoplasia. 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. These findings have not been reported previously in the lethal type Larsen syndrome.
Orhan
Diclehan
D
Division of Pediatric Pathology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Balci
Sevim
S
Deren
Ozgür
O
Utine
Eda Gülen
EG
Başaran
Ahmet
A
Kale
Gülsev
G
D000028:Abortion, Induced; D005260:Female; D006801:Humans; D008844:Micrognathism / Q000000981:diagnostic imaging*; D011247:Pregnancy; D013577:Syndrome; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging*; D014059:Tongue / Q000002:abnormalities*; D016216:Ultrasonography, Prenatal; D055815:Young Adult