Re: Syndromes the glossoptois really stands out and the first thing that came to mind was...Down's syndrome child ( doesn't look like, hypothyroid child ) ....but, since u mentioned 1 per 13,700, i go 4 'Beckwith-Wiedemann Syndrome'
Though after saying just the macroglossia, flat nasal bridge my mind also crossed over Down's syndrome......but that's not for sure after seeing the prevalence.....
Well in down syndrome you can see : Signs and symptoms : Congenital heart disease Cancer Thyroid disorders Gastrointestinal Infertility Eye disorders Hearing disorders The newborn has small round skull (brachycephalism) with flattened occiput and large fontanels which will close late. The face is round, flat facial profile is due to their bone hypoplasia of the nose and the forehead is bulging And a few more, cant remember, but for BWS (beckwith widemann syndrome) we have : Large birth weight and length (I can say here we can see if we look at his superior member ) Hypoglycemia in the newborn period (we cant see here ) Macroglossia (we can see this sign on this picture) Maloclussion Omphalocele Nevas Flammeus (alias named "stork bite" as neo_star said) Dx : beckwith widemann syndrome
u r only supposed to post in English, in the Spot Diagnosis section. Simple English will do and no spamming other wise i will delete ur posts and ban u....then u will not 'want to love' me P:
This is my beautiful baby boy and im not sure how he made it on this site but im glad to see how interested you are in learning his diagnosis. He was genetically diagnoised with Beckwith-Weidemann syndrome. He had his tongue reduction at age 6 months, he had a hernia repair at 18 months as well as a hypospadius correction. He is very smart and gets monitored closely. He'll be 2 next week and has been doing excellent with all exams.
