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Shweta Anand*, Anju Kapoor**
*Department of Paediatrics, Chirayu medical college& Hospital, Bhopal, Madhya Pradesh, **Department of Paediatrics, People’s College of Medical Sciences & Research Centre, Bhopal, Madhya Pradesh, India.
Address for Correspondence: Dr Shweta Anand, B-24,Vardhman green park, Ashoka garden, Bhopal(M.P.). E-mail- firstname.lastname@example.org
A 22 years old primigravida mother delivered a male term baby with normal Apgar score. Birth weight was 2.9 kg. There is no history of teratogen exposure. Soon after birth he developed respiratory distress. Detailed examination revealed wide anterior fontanel,
hypertelorism, depressed nasal bridge, midline clefting of nose, bilateral choanal atresia, right cleft lip, retrognathia and single umbilical artery. Ophthalmological examination suggested bilateral severe blephrophimosis, anopthalmos and hypertelorism. X
ray skull showed aplastic left frontal bone. Transorbital sonography suggested empty orbital fossa and transfontanelle sonography showed semilobar holoprosencephaly with left frontal encephalocele. Echocardiography was normal. Other systems were normal.
What is the diagnosis_?