Langer Saldino syndrome

Last revised by Jeremy Jones on 8 Apr 2023

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

This type of achondrogenesis results from a mutation in the collagen type II gene (COL2A1) on chromosome 12q. That mutation affects type II collagen encoding, resulting in poor or absent type II collagen. Most cases are sporadic, although some may be via autosomal dominant inheritance.

Most cases are stillborn or die within a few hours after birth. The neonate is extremely short stature and presents with a large calvarium, large fontanelles, hypertelorism, depressed nasal bridge, anteverted nostrils, hypertrophied tongue and micrognathia

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

Occasionally other abnormalities such as microtia, cleft palate, polydactyly, and hydrops can be present. Lymphatic malformations have also been described.

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, ischium, pubic bone, calcaneum, and talus

Prenatal ultrasound makes it possible for early detection of various skeletal dysplasias: as early as 15 to 19 weeks of gestation. Findings may include:

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