Antenatal diagnosis of larsen syndrome

Abstract

We report acase of antenatally diagnosed Larsen syndrome.A 30-year-old consanguineously married women witha pregnancy of 20 weeks of gestation, with history ofprevious child diagnosed as Larsen syndrome on the basisof characteristic clinical and radiological features.With the background history of Larsen syndrome inthe previous sibling, in the present pregnancy Larsensyndrome was diagnosed antenatally on the basis ofmultiple joint dislocations, resulting in abnormal positionof legs and club feet, hypertelorism and depressed nasalbridge on ultrasonography (Fig. 1).Antenatal genetic counseling was done and the coupledecided to terminate the pregnancy. The product ofmedical termination of pregnancy which confirmed theprenatal diagnosis. The abortus was sent for autopsy, andconfirmed the diagnosis.For antenatal diagnosis, targeted ultrasound in a fetusat risk for Larsen syndrome should include evaluation offace, which tends to be flat, depressed nasal bridge, cleftpalate, hypertelorism and prominent forehead. Jointsshould be examined for club feet, multiple jointdislocations at elbow, hips, knee and abnormal jointpositions. Spinal abnormalities include kyphosis andscoliosis. Occasional findings include hydrocephalus,clinodactyly, supernumerary carpal bones and digits.Sonographic diagnosis of the condition before the end ofthe second trimester affords the patient the ability toterminate the pregnancy if she desires, and gives thephysician the chance to recounsel the patient and plan forappropriate management.