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Coffin-Siris 4 Syndrome

A 25 year old 2nd gravida, previous pregnancy terminated due to congenital hydrocephalus presented at 23 weeks.


Findings 
Ultrasound revealed congenital hydrocephalus (lateral and 3rd ventriculomegaly), fetal growth less than 1st centile for gestation with increased amniotic fluid, small for gestation cerebellum, agenesis of corpus callosum, abnormal course of pericallosal artery, short long bones and congenital talipes equinovarus (CTEV).  There was an abnormal facial profile; orbits show protrusion (exophthalmos), flat facies, absent nasal bone and hypotelorism.

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Coffin-Siris Syndrome

FIgure 1. Lateral and 3rd ventriculomegaly, small cererbellum, absent corpus callosum(from left to right)

 

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Coffin-Siris Syndrome

Figure 2. Club foot, exophthalmos, absent nasal bone (from left to right)

 

Diagnosis and Follow Up
The clinical exome of the fetus was sent and it reported pathogenic variant in gene SMARCA4(heterozygous,  autosomal dominant)(figure 4) suggesting Coffin-Siris 4 Syndrome. Genetic counselling of the parents was done and their parental analysis offered, which would further aid in planning next conception.

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Coffin-Siris Syndrome

FIgure 3. Abortus photo showing exophthalmos, flat facial profile and left club foot

 

 

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Coffin-Siris 4 Syndrome

Figure 4. Clinical exome reported SMARCA4 mutation

 

 

Submitted by

Dr. Nupur Shah MS OBGY
Fellow in fetal medicine (ACFM-FMF,UK)
Fellow in medical genetics   
Gangaram Hospital