Langer Saldino syndrome

The Langer Saldino syndrome or achondrogenesis type II is a sub type of achondrogenesis. It is an extremely rare fatal skeletal dysplasia.

Majority of cases are sporadic. Autosomal dominant inheritance is also another mode. There is mutation in the collagen type II gene (COL2A1) on chromosome 12q which is responsible for type II collagen encoding.

Majority of cases are stillborn or die within few hours after birth. The neonate is extremely short stature and present with large calvarium, large fontanels, hypertelorism, depressed nasal bridge, anteverted nostrils, hypertrophied tongue and micrognathia

Other abnormalities include a short neck, short limbs (rhizomelic), narrow thorax and distended abdomen.

Ocaisionally other abnormalities such as microtia, cleft palate, polydactyly, hydrops and cystic hygroma can be present.

Radiographic features include 

  • normal cranial ossification
  • short ribs without fracture
  • short and broad tubular bones with metaphyseal widening and spurs
  • disproportionately long fibula
  • squaring of iliac wings with a horizontal acetabular angle.
  • insufficiently ossified vertebrae, ishium, pubic bone, calcaneum and talus.

Prenatal USG made it possible for earl detection of various skeletal dsplasias as early as 15 to 19 weeks of gestation. Findings may include

 

Share article

Article information

rID: 27495
Tag: pm
Synonyms or Alternate Spellings:
  • Langer-Saldino syndrome
  • Achondrogenesis type II
  • Langer saldino syndrome - achondrogenesis type II
  • Achondrogenesis type 2
  • Langer Saldino type achondrogenesis
  • Langer-Saldino achondrogenesis

Support Radiopaedia and see fewer ads

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.