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Background
Low-molecular weight oral anticoagulant drug (warfarin) and it's derivatives have disadvantages in mother and fetus in term of safety, efficacy and cost. It easily crosses the placenta and causes spontaneous abortion, stillbirth, neonatal death and many other congenital anomalies known as warfarin syndrome/warfarin embryopathy or Di Sala syndrome.
Case presentation
An 11-month-old male infant was referred to us in our medical university for evaluation of delayed milestones, stunted growth and no vision. His maternal history was significant. His mother was suffering from rheumatic valvular heart disease for which prosthetic mitral valve replacement was done in 2002. She was put on injectable long acting penicillin (penidure) and low-molecular weight oral anticoagulant (warfarin) for life long. However mother delivered a male child in May 2010 against medical advice. The baby patient was born at 35 weeks gestation and developed hypoxic ischaemic encephalopathy and revived with the help of ventilatory support.
Physical examination revealed stunted growth of the patient, depressed nasal bridge, deep recess between ala of nose and upper lip, telecanthic eyes ( figure 1A,B ) and pectus excavatum. Brittle nails, brachydactyly, polydactyly were present in the left fifth finger ( figure 2 ). Ophthalmological examination revealed normal bilateral optic disc but no vision, as the baby was unable to follow torch light. Audiometric findings were normal.
Investigations
Digital skiagram of skull including face revealed brachycephalic head, nasal hypoplasia and narrowed nasopharyngeal airway ( figure 3 ). Antero-posterior view of bilateral knee joints revealed stippled metaphyses and epiphyses with calcifications in epiphysial regions of lower ends of femur and upper ends of tibia ( figure 4 ). Lateral view of chest skiagram revealed patchy small calcification in sternum with evidence of pectus excavatum ( figure 5 ). Antero-posterior view of left hand skiagram revealed brachydactyly, additional phalange in fifth finger and shortened fourth metacarpal bones were also noted in this case which was not yet reported in literatures to the our best of knowledge ( figures 6 and 7 ). MRI of brain did not reveal any obvious abnormality. However MRI of both orbit revealed atrophic bilateral optic nerves ( figure 8 ). Two-dimensional echocardiography also did not reveal any...