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- Prenatal Findings
- - Mom had gestational diabetes diet controlled.
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- Birth
- - Born at 37 1/2 weeks via vaginal delivery.
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- Build / Stature
- - Short stature
- - Hemihypertrophy
- Head
- - Metopic craniosynotosis
- - Plagiocephaly
- Face
- - Orbital hypertelorism
- - Right hemifacial microsomia
- Eyes
- - Nystagmus
- Strabismus - had surgery, but did not correct
- Hair
- - Mild hirsutism
-
- Neck
- - Torticollis
- Spine
- - Spinal compression due to
progressive scoliosis
- Lower Limb
- - Right leg muscle mass less than
left leg
- Skeletal
- - Osteoporosis
- Respiratory System
- - Asthma
- Alimentary Tract
- - GERD, Fundoplication and
pyloroplasty performed
- - Dysmotility
-
- Cardiac
- - Benign heart murmur
- - Tachycardia due to autonomic dysfunction
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- Allergies
- - Latex
- Soy and Dairy
- Erythromycin
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- Neurological
- - Seizures - partial and complex
- - Non-REM motor parainsomnia or restless leg syndrome
-
- Small fiber autonomic neuropathy
- Autonomic dysfunction
- Degenerative Neuromuscular disorder
-
- Neurological Structural
- - Ventriculomegaly
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- Neurological Functional
- - Hypotonia
- - Dysphasia
- Development
- - Global developmental delays - gross motor, speech
and fine motor delays
- Feeding
- - 100% J tube dependent
- - Failure to thrive
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- Other
- - Monocular XT
- Chromosome Findings
- - Duplication 22q13.32q13.33
- - Deletion 7q31.1
- Laboratory Test and
Findings
- - UBE3A negative
- Coffin-Lowry syndrome negative
- Allan-Hernandon-Dudley Syndrome negative
- Mitochondrial testing negative
- Signature Chip Microarray 22q13.32q13.33 interstitial duplication
- CPK normal
- Fatty acid, long chain normal
- DNA for L1CAM normal
- Rett Syndrome MECP2 Sequencing no mutations detected
- Rett Syndrome Del/Dup no mutations detected
- Seen By
- - Endocrinology
- Genetics
- Gastroenterology
- Neurology
- Ophthalmology
- Metabolic
- Pediatrician
- Craniofacial
- Orthopedics
- Physical Medicine
- NIH Undiagnosed Program
- ENT
- Dentistry
- Autonomic Clinic
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- Surgeries
- - Excision of cyst (epidermal inclusion cyst and
inflammed lymph nodes) - 08/09, 05/09, 06/08
- Strabismus surgery - 06/09
- MRI/MRS of brain - 06/09, 03/07
- Tympanostomy bilaterally - 05/09, 04/07
- Moved bone in nose - 05/09
- EGD - 04/09, 11/07
- Botox shots in stomach for dysmotility - 04/09
- Excision of excessive granulation tissue around G/J tube - 11/08
- Nissen fundoplication and pyloroplasty - 09/08
- MRA - 09/08
- Tonsillectomy and adenoidectomy 04/08
- PEG tube placement - 09/07
- Muscle biopsy - 09/07 - negative for mitochondrial disease
- Upper GI - 02/07
Contact: Joanna mom
to Alex at
alpaca_crossing@yahoo.com
Website:
www.caringbridge.org/alex_lawrence
Any
troubles with e-mails send to swanusa@undiagnosed-usa.org
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