LARSEN’S SYNDROME  

Larsen's syndrome is a rare hereditary disorder characterized by multiple skeletal anomalies and flattened facies. The major diagnostic criteria of the syndrome lack specificity, and the syndrome may represent a collection of similar phenotypes with different underlying defects (1).
 

Facial Anomalies

Prominent forehead.
Hypertelorism.
Micrognathia.
Cleft palate / high arch palate.

Limbs

Multiple joint dislocations (especially knees). (*)
Anterior dislocation of the knees (genu recurvatum).(*)

Hands

Simian creases.
Clinodactyly.

Chest

Cardiac malformations.
Hypoplastic rib cage. (**)
Hypoplastic lungs. (**)
Laryngotracheomalacia. (**)

Others

Single umbilical artery (4).
Intestinal malrotation (4).
Pelvic kidney (4).

(*) - Characteristic of Larsen's Syndrome (2).
(**) - Characteristic of the lethal variant of Larsen's Syndrome.
 

DIFFERENTIAL DIAGNOSIS (3)

 

Differentiation of Larsen's syndrome from other syndromes of multiple congenital dislocations and arthrogryposis relies on the presence of characteristic facial features, the absence of stiff joints, contractures or muscle wasting.

1.      Arthrogryposis multiplex congenital.

2.      Pena-Shokeir syndrome.

3.      Some cases of trisomy 18.
 

INHERITANCE

 

 

 

REFERENCES
  1. Mostello D, Hoechstetter L, Bendon RW et.al. Prenatal diagnosis of recurrent Larsen syndrome: Further definition of a lethal variant. Prenat Diagn 1991;11:215.
  2. Houston CS, Reed MH, Desautels JE. Separating Larsen's syndrome from the "arthrogryposis basket". J Can Assoc Radiol 1981;32:206.
  3. Steel HH, Khol EJ. Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings. J Bone Joint Surg (Am) 1972;54:75.
  4. Lewit N, Batino S, Groisman GM et.al. Early prenatal diagnosis of Larsen's syndrome by transvaginal sonography. J Ultrasound Med 1995;14:627-629.
  5. Clayton-Smith J, Donnai D. A further patient with the lethal type of Larsen's syndrome. J Med Genet 1988;25:499.
  6. Perez TA, Vilamova VJL, Diez DGF. Larsen syndrome - report of three cases in one family, mother and two offspring. Acta Orthop Scand 1978;49:582.
  7. Tongsong T, Wanapirak C, Pongsatha S et.al. Prenatal sonographic diagnosis of Larsen syndrome. J Ultrasound Med 2000;19:419-421.