Larsen Syndrome

Abstract

Larsen syndrome is a rare inherited disorder of collagen formation with multiple joint dislocations, cardiac abnormalities, short stature, talipes equinovarus, short and broad fingertips, spatula-like thumbs, supernumerary ossification center in the calcaneus, hearing loss, neurologic impairment, cryptorchidism, and characteristic craniofacial abnormalities. The sonographic prenatal findings in a case of Larsen syndrome at 26 weeks' gestation, which demonstrated joint dislocations, hypertelorism, frontal bossing, micrognathia, and upper and lower limb shortening and confirmed at both 29 and 30 weeks' gestation, are presented and discussed. When evaluating patients with a positive family history of Larsen syndrome, sonographers should carefully scan and meticulously assess the fetal extremities for signs of dislocation and the face for signs of flat features, hypertelorism, micrognathia, and depressed nasal bridge, distinctive features of the syndrome.

Prenatal diagnosis and postnatal outcome of fetal congenital knee dislocation: systematic review of literature

“…The systematic search of the literature identified 742 studies, of which 726 were excluded and 16 were included in the analysis (Figure 1) [7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22] . Nineteen cases with a prenatal diagnosis of CKD were retrieved from the identified studies and an additional case was found in the database of our center.…”

“…Cases with Larsen syndrome presented with a flat facial profile (60%), micrognathia (100%), hypertelorism (60%), bilateral or unilateral hip dislocation (60%), short nasal bridge (40%) and low-set ears (40%). Prenatal diagnosis of Larsen syndrome was suspected following ultrasound detection of fetal abnormalities, with three cases confirmed postnatally based on clinical assessment alone by a geneticist 8,11,16 and two confirmed with the adjunct of LAR1 mutation genetic testing 14,19 . The diagnosis of Noonan syndrome was made after TOP at 17 weeks for mirror syndrome in a fetus with multiple anomalies with DNA analysis showing PTPN11 mutation 15 .…”

“…The first in-utero diagnosis was made using X-ray in 1986 7 . The few reports that are available in the literature describe contradictory findings and used different management strategies, ranging from a conservative approach to termination of pregnancy (TOP) [7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22] . Moreover, the risk of associated anomalies is uncertain for both structural and genetic conditions.…”