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9 Month Old with Signs of BWS

9 Month Old with Signs of BWS

He was 8.1 lbs & 21.5 in at birth. He’s currently 23 lbs (I’m not sure of his height but he’s in 18 month clothes). He was born with a fontanelle that was shaped like a cross and split his head into quadrants. It grew up quickly into an average sized fontanelle (his doctor called them suture lines). He was also born with little red dots on the back of his neck (stork bites). His doctor also called those something but I forget. I’ve always noticed slight differences in leg length but I’m now noticing that his right leg Is fatter than his left. He also has a “knot” on the bottom of his skull of the right side. It’s not huge but it’s there. His 9 month appointment is Friday. Anyone have any insight? I’m definitely speaking to his pediatrician about my concerns but you all probably know more than him on the topic.

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Apologies for not replying sooner. Last year medial experts on BWS from across Europe met and produced a report on identifying and managing the syndrome. They recommended that score of four or more must be reached for a diagnosis of classical BWS and a score of two or more for genetic testing. Hope that the medical jargon is not too confusing. The scoring system is as follows:

Cardinal Features of BWS (2 points per feature)

Macroglossia

Exomphalos

Lateralised overgrowth

Multifocal/bilateral Wilms tumour or nephroblastomatosis

Pathology findings: adrenal cortex cytomegaly

placental mesenchymal dysplasia

pancreatic adenomatosis

Suggestive Features (1 point per feature)

Brth weight above 2 standard deviations

Facial naevus simplex

Polyhydramnios/placentomegaly

Ear creases/pits

Transient hypoglycaemia/hyperinsulinism

Typical BWS Spectrum tumurs

Nephromegaly/hepatomegay

Umbilical hernia/diastasis recti

Hope this is of some use. Please give us a ring on 01258 817573 if it helps to talk.

Best wishes

Bob and Gill Baker

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