Facies of CORNELIA DE LANGE SYNDROME -spot diagnosis

25 days old child presented with refusal to feeds. Please Spot dx the facies. D.ds?

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As @Dr. Sandeep S sir mentioned, It's a case of CORNELIA DE LANGE SYNDROM with characteristic facies - arched eye brows often meet in the middle(synophrys), long eyelashes, upturned nose, microcephaly, micrognathia. (Micrognathia,high arched eyebrows are present in 85-95% of cases.) In this baby, other features of Cornelia de Lange syndrome, like cleft palate, hypertrichosis were also present presented with refusal to feed. Other presentations are Intellectual disability, developmental delay, autistic behaviour,GIT problems, hearing loss, congenital heart defects etc. Also known as BRACHMANN DE LANGE SYNDROME (BDLS) or TYPUS DEGENERATIVUS AMSTELODAMENSIS
Child seems to have a recessed jaw/retrognathia and it is possible that it is causing difficulty to latch onto breast to feed. Also child shows bulging eyes and flat nose bridge, syndromic face. What is the tone like and movements ? Child shows flexion at limbs , doesn't look hypotonic so highly unlikely it is Downs. Better to refer to Paediatrician for developmental scan, check vision, hearing and advice for feeding... Would also like @Dr. Saloni Arora to comment if facial feature is cause for difficulty with feeds.
Thank you doctor
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This is a case of trisomy 18 also known as Edwards syndrome..... classical features seen are . . Small jaw, clenched fist, malformed ears,wide spaced nipples..
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SUGGESTIVE OF CORNELIA. DE. LANGE SYNDROME DD EDWARDS SYNDROME... TRISOMY. 18. DUPLICATION
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Cornelia Dr Lange syndrome.microcephaly, small chin,synophrys.
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Noonan syndrome ??
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CP- FINGERS POSITION
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? DOWN SYNDROME..
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Dawn syndrome
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Dawn syndrome
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