|IMAGES IN CLINICAL NEONATOLOGY
|Year : 2015 | Volume
| Issue : 4 | Page : 285-287
Larsen syndrome: Image in clinical neonatology
Ghassan S. A. Salama1, Mahmoud A. F. Kaabneh1, Ruba A. A. Halaseh2, Mohammad L Alquran3
1 Neonatologist, ian Royal Medical Services, Amman, Jordan
2 Department of Paediatric, G.P., Jordanian Royal Medical Services, Amman, Jordan
3 Department of Pediatrician, Jordanian Royal Medical Services, Amman, Jordan
|Date of Web Publication||16-Oct-2015|
Ghassan S. A. Salama
Senior Specialist of Neonatology, Pediatric Department, Division of Neonatology, Jordanian Royal Medical Services, Amman
Source of Support: None, Conflict of Interest: None
Larsen syndrome (LS) is a rare osteochondrodysplastic genetic disorder. The cardinal features of this condition are dislocations of the large joints, skeletal malformations, and the distinctive facial features. Here, we are presenting the features of LS in a full term female newborn.
Keywords: Facial features, genetic disorder, knee dislocation
|How to cite this article:|
Salama GS, Kaabneh MA, Halaseh RA, Alquran ML. Larsen syndrome: Image in clinical neonatology. J Clin Neonatol 2015;4:285-7
| Larsen Syndrome|| |
A rare osteochondrodysplastic genetic disorder that has been associated with a wide variety of different clinical findings. The cardinal features of this condition are dislocations of the large joints, skeletal malformations, and distinctive facial features.
| Case Report|| |
Our case is a female newborn who is afirst baby of nonconsanguineous marriage. The baby was the product of smooth caesarian section due to breech presentation at term, after an uneventful pregnancy. The primigravida, nonsmoker 22-year-old mother, has no chronic medical illnesses or history of drug ingestion during pregnancy and no family history of a congenital deformity. Apgar scores at birth, 1st and 5 min were 8/10 and the newly born baby needed no intervention immediately after birth. On examination, the female newborn weighted 2850 g, and the following abnormalities were detected: Depressed nasal bridge, wide spaced eyes [Figure 1], small low-set and posteriorly rotated ears [Figure 2], abnormal position of both knees in the form of gene recurvatum, bilateral club feet [Figure 3]. Heart examination revealed ejection systolic murmur grade II/VI. Complete blood count, kidney, and liver function tests all were within the normal range for the age.
|Figure 1: Characteristic facial features (prominent forehead, depressed nasal bridge, and wide spaced eyes)|
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|Figure 3: The characteristic appearance of bilateral congenital dislocation of the knees and clubfoot at birth|
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Antero-posterior (AP) and lateral radiograph of both knees, showed anterior dislocation of both knees, and an AP radiograph of hips at birth showed bilateral acetabular dysplasia [Figure 4] and [Figure 5]. Two-dimensional-echo revealed small atrial septal defect and tinny patent ductus arteriosus. Abdominal and renal ultrasonography and brain computed tomography scan showed no structural abnormalities. Hearing assessment revealed the normal hearing pattern. Genetic testing was not possible because of refusal.
|Figure 4: Radiograph before reduction demonstrating anterior subluxation in the bilateral knees|
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|Figure 5: Lateral radiograph of the knee at birth shows anterior dislocation of the knee|
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Early reduction of the dislocated knees with flexion >90° was started, and the extremity was immobilized with a splint that was changed every 2 weeks. Concomitant treatment using a Pavlik harness for associated developmental dysplasia of the hip was initiated at the age of 6 weeks and to be maintained for at least 4 months. The newborn is still under regular monitoring by both neonatologist and orthopedic for any unexpected sequelae or complications and planned to be examined every 2 months until walking, then annually.
| Discussion|| |
Larsen syndrome (LS, OMIM number: 150250) is a rare osteochondrodysplastic genetic disorder that has been associated with a wide variety of different clinical findings. The cardinal features of this condition are dislocations of the large joints, skeletal malformations, and the distinctive facial features., The incidence of LS is about 1 in 100,000., LS was originally described by Larsen et al., in 1950 when they reported a syndrome of multiple congenital dislocations (bilateral dislocation of elbows, hips and knees), and characteristic faces (prominent forehead, depressed nasal bridge, wide spaced eyes). Clubfoot and short metacarpals with cylindrical fingers, cleft palate, hydrocephalus and abnormalities of spinal segmentation. Other associated findings can include: Hearing loss, laryngomalacia with apnea, kyphosis, and atlantoaxial dislocation. Both autosomal dominant and autosomal recessive pattern of inheritance are described in LS. The autosomal dominant LS is caused by a heterozygous mutation in the gene encoding Filamin B (FLNB) on chromosome 3p14.3. While the autosomal recessive syndrome has been found to be caused by a mutation in the B3GAT3 gene on chromosome 11q12.3. Meanwhile, Frints et al. described a case of asymmetric LS which was explained by unilateral somatic mosaicism.
Diagnosis of LS is established by a thorough clinical evaluation, detailed patient history, characteristic clinical features and skeletal X-rays findings and is confirmed by genetic testing. Prenatal diagnosis is available for those with a family history of LS.
Differential diagnosis includes other more severe and lethal FLNB-related disorders: Larsen-like syndrome, B3GAT3 type; reunion island's LS and Desbuquois syndrome atelosteogenesis type I, atelosteogenesis type III and boomerang dysplasia as well as otopalatodigital syndrome type I and spondyloepiphyseal dysplasia, CHST3 type; chondrodysplasia with joint dislocations, gPAPP type.
When LS is suspected, cesarean delivery is the preferred mode of delivery to prevent limbs and cervical spine trauma during vaginal delivery. After delivery, the management should be adapted to each patient, and multidisciplinary teams are recommended including pediatricians, orthopedic surgeons, craniofacial specialists, geneticists, and audiologists. Management may involve long-term orthopedic treatment and monitoring of the joints, surgical procedures to correct skeletal dislocations or deformities, especially for hip dislocation, and physiotherapy. It is essential that all infants with a clinical diagnosis of LS have their cervical spine evaluated as soon as practicable after birth to exclude life-threatening cervical spine instability.
The prognosis of children who have LS is variable and most affected persons have moderate symptoms that can be treated, allowing for a relatively normal life span. In severe forms of LS the prognosis can be poor. Death can occur due to cardiorespiratory arrest after brainstem compression due to subluxation of the cervical spine. Respiratory complications are also frequent, with recurrent infections.
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Conflicts of interest
There are no conflicts of interest.
| References|| |
Cheng CC, Ko JY. Early reduction for congenital dislocation of the knee within twenty-four hours of birth. Chang Gung Med J 2010;33:266-73.
Larsen LJ, Schottstaedt ER, Bost FC. Multiple congenital dislocations associated with characteristic facial abnormality. J Pediatr 1950;37:574-81.
Knoblauch H, Urban M, Tinschert S. Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters. Genet Couns 1999;10:315-20.
Frints SG, De Smet L, Fabry G, Fryns JP. A young female with asymmetric manifestations of Larsen syndrome: another example of unilateral somatic cell-line mosaicism. Clin Dysmorphol 2000;9:273-6.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]