raine syndrome , also called as lethal osteosclerotic bone dysplasia , first described by raine and winter in 1989 in a term female baby , which died soon after birth . this has high mortality and most babies are still born or die during the neonatal period . this is very rare genetic disorder and very few cases have been reported all over . to the best of our knowledge , a 1-month-20-day - old baby , born to second degree consanguineous parents , was brought with complaints of inability to suck at the breast and failure to thrive since birth . there was a history of episodes of cyanosis while feeding , which used to subside by crying . the first baby and fourth baby died soon after birth and they had features suggestive of raine syndrome . baby was weighing 2.75 kg , length was 48 cm and head circumference was 33 cm . the anterior fontanel was bulged ; it was measuring 6 cm  4 cm and posterior fontanel 5 cm  4 cm . there was exophthalmos , small nose with depressed nasal bridge , gum hyperplasia , high - arched narrow palate , long philtrum and dysplastic ears [ figure 1 ] . baby was also having short fingers and toes . the infant feeding tube ( sizes 5 and 6 ) baby 's lungs were clear cardiovascular system , central nervous system and abdominal examinations were normal . raine syndrome baby showing exophthalmos , small nose with depressed nasal bridge , long philtrum and dysplastic ears baby 's routine blood investigations were normal . infantogram of the baby showed generalized osteosclerosis [ figure 2 ] . computed tomography scan of the brain showed diffuse hyperdense areas of calcification in periventricular region , corpus callosum and basal ganglia on both sides [ figure 3 ] . diagnosis of raine syndrome was made based on typical clinical presentation , radiographic picture and brain tomography findings . infantogram of baby showing generalized osteosclerosis of bones computed tomography scan of the brain showing calcifications in periventricular white matter , corpus callosum and basal ganglia raine syndrome , also known as lethal osteosclerotic bone dysplasia , is a rare autosomal recessive disorder characterized by exophthalmos , microcephaly , depressed nasal bridge , bilateral choanal atresia / stenosis , gum hyperplasia and osteosclerosis . the osteosclerosis is usually generalized , but occasionally may be focal involving only few bones . calcifications are seen in parietal and occipital periventricular white matter and corpus callosum , but never occur in cortex , temporal lobes , internal capsule , cerebellum and brain stem . major association between sclerosing dysplasia and intracranial calcification is seen in osteopetrosis associated with renal tubular acidosis and carbonic anhydrase ii deficiency . however , in this disorder , the calcifications are usually seen after 2 years of age exclusively in basal ganglia and cortex and characteristic clinical features of raine syndrome are lacking . it is inherited as autosomal recessive ; mutations in fam20c gene on chromosome 7 are identified in babies with this disorder . initial reports showed that this disorder is lethal and most of babies with this disorder died in early months of their life . however , mutations in fam20c gene were also noticed in older children with phenotypic features of raine syndrome with osteosclerosis , indicating that lethality is not essential for diagnosis .
raine syndrome is a rare genetic disorder with characteristic features of exophthalmos , choanal atresia or stenosis , osteosclerosis and cerebral calcifications . 
 most of babies with this disorder die immediately after birth . 
 we report a baby who was 7 weeks old at the time of presentation .