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The face of the child with dysmorphism, microcephaly and bitemporal narrowing.

The face of the child with dysmorphism, microcephaly and bitemporal narrowing.

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Figure 1) The face of the child with dysmorphism, microcephaly and...
Figure 2) Sequence chromatogram and alignment to the reference sequence...
Figure 3) Sequence chromatogram and alignment to the reference sequence...
Case report of a syndromic girl with intellectual disability having both DYRK1A and SCN1A mutation
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  • Jul 2020
Mutation of DYRK1A is associated with intellectual disability along with syndromic characteristics like microcephaly, developmental delay, dysmorphic face. Here we present a girl with DYRK1A mutation and SCNIA mutation with syndromic features. Case summary: This is a 7-year 10-month girl with behavioural disorder, autistic feature, speech delay and...
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Context 1
... 42 cm (<3SD) suggestive of microcephaly. She had bitemporal narrowing, a prominent occiput and deep set eyes ( Figure 1). She was not pale, anicteric, skin survey was normal. ...