Build / Stature

- Short stature

Head

- Craniosynstosis involving 2 ½ fissures at the back of his skull

- Large fontanel

Ears

- Absent Eustachian tubes

- Ears are pushed back on the head and tilted.

Eyes

- Absent tear ducts and lachrymal sac on right side

- One short tear duct on left, no lachrymal sac.

 

Mouth

- High vaulted palate

Neck

- Branchial cleft cysts

Neurological Functional

- Dysphagia

- Hypotonia

Development

- Speech Delay
- Fine Motor Delay
- Gross Motor Delay

Feeding

- Feeding tube for 8 months but now is eating by month.

Laboratory Test and Findings

- He has been tested for the known genetic disorders that deal with cranial-facial abnormalities, and has had 2 comprehensive genetic screens.  His growth hormone and thyroid and calcium levels have all been tested.  He has been screened for Prader-Willi, Mosaic Down’s Syndrome and Cystic Fibrosis.  All tests have come back normal.

Contact: Janette mom to Gavin at Janette.Metzler@TheMentorNetwork.com

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