12 yr old female child, born of a non consanguinous marriage. child hd normal milestones in the first year of life. But after the child started walking mother noticed unsteadiness of gait, which slowly progressed. develop recurrent redness of face on exposure to sunlight since the age of one year..O/E -short stature & cachexia.Microcephaly with mental retardation,large sunken eyes, large prominent ears,severe dental caries,aged appearance,disproportionately large hands & feet Diagnosis? Synonyms? Management


to me this is a syndromic child with neurodevelopmental regression. but to me child also looks pale. there is typical facial dysmorphism and neurodevelopmental regression... so my first diagnosis is cockayne and second is porphyria
xp= scleroderma pigmentosa cs= cockayne syndrome, which leads to accelerated ageing after 6 yrs and low brain weight.
Cockayne Syndrome
Typical case of Cockayne syndrome, large ears beautiful cking of nose, microcephaly
looks lik marfan syndrome..does she has scoliosis?
no scoliosis
Hutchinson-Gilford Progeria ?
looks like progeric
sir what was the birth weight, could be lamborrte syndrome, it looks like mcr/mr, with iugr, hooked nose, microcephaly with severe neurological impairment. could be xp cs syndrome, needs genetic evaluation, dna studies.
Multiple epiphysial dysplasia Al-gazali type,check for cataract n corneal opacity as hallermann strieff may hv these features too,cutis laxa with growth n developmental delay(CLGDD)
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