I M A G E S

Larsen Syndrome Larsen syndrome (OMIM 150250) is a complex syndrome with genetic heterogeneity, and with both autosomal dominant and autosomal recessive An eleven year old male child born to a patterns of inheritance. Mutations in gene encoding nonconsanguinous couple presented with multiple B (FLNB) result in Larsen syndrome. This since birth. He had mild motor gene has an important role in vertebral delay. Examination showed presence of short segmentation, joint formation and endochondral stature. There was no microcephaly. He had flat ossification and is also mutated in atelosteogenesis facies, prominent forehead, depressed nasal bridge, types I and III, and in spondylocarpotarsal and (Fig. 1). He had bilateral syndromes. Autosomal dominant form is rhizomelic shortening of upper limbs, spatulate and characterized by flat facies, joint hypermobility, dislocated thumbs (Fig. 2), bilateral elbow, ankle, congenital multiple joint dislocations, especially of and dislocation (Fig.3). Examination of parents the and talipes equinovarus. The mid-face is did not reveal any features of Larsen syndrome. hypoplastic with a depressed nasal bridge. Cleft X-rays of long bones showed presence of bilateral palate may be present. Osteoarthritis involving large tibio-femoral and patellar dislocation at knees and joints and progressive kyphoscoliosis are potential dislocation at hip, ankles and thumbs. He also had complications. Airway obstruction caused by hypoplastic fibula on right side. X-ray spine showed tracheomalacia and bronchomalacia may be life presence of short and thick pedicles, and threatening. All affected individuals should be hypoplastic superior articular facets. There was no evaluated for cervical spine instability and caution atlanto axial dislocation. Child was referred to should be taken during anesthesia because of the orthopedic surgeon for aggressive orthopedic mobile arytenoids cartilage as well as the potentially management. dangerous spinal anomalies. Important differential

FIG. 1 Facial dysmorphism. Note flat FIG. 2 Note dislocations at thumb. FIG. 3 Multiple dislocations at nasal bridge and prominent large joints. forehead.

INDIAN PEDIATRICS 783 VOLUME 45__SEPTEMBER 17, 2008 IMAGES diagnosis is Otopalatodigital syndrome type 1 Neerja Gupta, characterized by pugilistic facies, hearing loss, Madhulika Kabra, paddle shaped metatarsal bones, no juxta calcaneal Genetics Unit, Department of Pediatrics, bones and no supernumerary carpal bones. AIIMS, New Delhi 110 029, India. E-mail:[email protected]

Calcinosis in Juvenile Dermatomyositis understood. It is said to occur in up to 30% of patients with JDM. The sites most frequently affected are the elbows, knees, digits and A 5 year old boy was diagnosed to have JDM extremities, although it may occur virtually (Juvenile dermatomyositis) at the age of 2 years and anywhere over the body. Longstanding active had received treatment with corticosteroids, disease, especially when associated with delay in methotrexate and hydroxychloroquine for three initiation of therapy is supposed to be an important years. The muscle power improved while on therapy. risk factor for development of calcinosis. There is no He presented with swelling around the knees and specific treatment. ankles for last two months. X-ray showed massive Kana Ram Jat, calcinosis around ankle joint (Fig 1, 2). Surjit Singh, Calcinosis is a sequel of juvenile Advanced Pediatric Center, dermatomyositis. Its pathogenesis is not well PGIMER, Chandigarh 160 012, India: E-mail:[email protected]

FIG. 1 Calcinosis around ankle joint. FIG. 2 Calcinosis around ankle joint (lateral X-ray).

INDIAN PEDIATRICS 784 VOLUME 45__SEPTEMBER 17, 2008