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Old 07-10-2009, 08:51 PM   #1
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Possible syndrome?

Ever since my DS was born the NICU doctors kept telling me that they think he has a syndrom their just not sure which one.
His tests have all come back normal, but they have a list of things that just arent "normal".
1.) mild dysmorphic facial features (they say he has a wide nasal bridge, small mouth, and recessed chin)
2.)clinodactatly (his thumbs are turned into his palms so they are curled under his fingers all the time
3.)epispadias (his uretha exits at the top of his penis instead of at the tip)
4.) he has fluid in his left kidney
5.) he has a grade 2 heart murmur
6.) he has central apena causing bradycardias (he came home on an apena monitor)
7.) they thought he had a simien crease in his hands but all my DHs family has it.
So because of all that they keep telling me that there is something going on with him.
They did every test you can think of in the hospital, while he was there for the first 6 weeks of his life.
When I look at him, most of the time he looks like a "normal" little boy. But theres certain times that I think I can see what they are talking about.

So after all that rambling, does anyone elses LOs have a sydrome that is undiagnosed?


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Old 07-13-2009, 02:29 PM   #2
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Re: Possible syndrome?

my dd has an syndrome of some sort too. she was in the nicu only a week but should have been there longer. she had seizures where she would completly stop breathing. she is now 3 and we still don't have a dx.

her symptoms include:

Global developmental delay
seizure disorder
Cerebellum Atrophy

She does not walk or talk. and probably on the level of a 10 mth old. All genetic testing has been normal. so whatever she has is really rare, or hasn't even been discovered yet. but we are still trying to figure it out. Its really hard but don't get discouraged. I just remember that the lord knows what my dd has and that he will let us know when its time for us to know.
Kayla SAHM to Catie 9/17/05 and Chambers 10/17/07 , and a proud to Grady
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Old 07-13-2009, 04:05 PM   #3
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Re: Possible syndrome?

We have many "diagnosis" too that they keep telling me they think there is more going on, but do not know exactly what.

He has:
Mild dismorphic features, things like recessed hair line, white patches of hair in the front, the rest is brn.
Global Developmental Delays
Global Hypotonia
Pragmatic Speech Delay
Silent Seizures
Tongue Tied at birth
Macrocephaly with mild hydrocephaly
Hydrosplacia with a Chordae (fixxed)
Chronic HIGH fevers that seem to come and go in waves

Try not to get discouraged, its hard to not get all wrapped up in finding a name for it, when in reality it may not really change the approch we have.

Cristi, Creatively Ewe - Stocking at Bitty Fluff and on my HC Creator of the Norway Romper, Belle Romper, Jack and Jill Sweaters!
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Old 07-13-2009, 04:57 PM   #4
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Re: Possible syndrome?

Thank you so much.
I think I will take your guys advice and stop looking and enjoy my special little man.
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