IMAGES IN CLINICAL PRACTICE

Marshall Syndrome . A clinical diagnosis of Marshall syndrome was made. Marshall syndrome is an autosomal dominant chondrodysplasia characterised by A seven-year-old boy born of non- mid-facial hypoplasia, sensorineural deafness consanguineous marriage presented with nasal and ocular defects (cataract, high ). regurgitation and nasal voice. Examination Other abnormalities include ectodermal dys- revealed a large head (head circumference 52 plasia, absent frontal sinuses, falx, tentorial cm) with large eyes and short nose with flat and meningeal calcifications, spondylo- nasal bridge (Fig. 1). There was a small epiphyseal abnormalities including slightly submucus cleft palate with bifid uvula (Fig. small and irregular distal femoral and 2). The child weighed 13 kilograms and was proximal tibial epiphyes and wide tufts of 102 cm in height, both parameters below 3rd distal phalanges. Occasional abnormalities percentile. Further examination revealed include mental deficiency, prominent upper incisors and thick lips. and cleft palate. The may spon- Skiagrams of head, dorsolumbar spine, pelvis, taneously resorb. both lower limbs and upper limbs revealed calvarial thickening, mild platyspondyly and Marshall syndrome phenotype often outward bowing of radius and ulna. A cataract resembles Spondyloepiphyseal Dysplasia had been noted in infancy but present Congenita (SED Congenita), Congenital ophthalmic examination revealed high Syphillis, Wagner syndrome and Stickler myopia in both eyes with no evidence of syndrome. Stickler and Marshall syndromes

Fig . 1. Large head, large eyes and short nose with flat nasal bridge.

INDIAN PEDIATRICS 177 VOLUME 42__FEBRUARY 17, 2005 IMAGES IN CLINICAL PRACTICE

Fig. 2. A small submucus cleft palate with bifid uvula. were considered be the same disorder in the Priya Marwah, past but are now considered distinct. Patients *Sanjeev Joshi , with have flat cheek Departments of Pediatrics and ENT*, bones, a small jaw and cleft palate. In most Mahatma Gandhi National Institute of cases of Marshall syndrome genetic studies Medical Sciences, have demonstrated a splicing mutation of Sitapura, Jaipur-302 022, 54-bp exons in c-terminal region of India. COL11A1 gene.

INDIAN PEDIATRICS 178 VOLUME 42__FEBRUARY 17, 2005