Prenatal Findings

- Intra-uterine growth retardation (1lb 8oz at 31 weeks)

 

Build / Stature

- Low body fat

- Proportional short stature (below 3rd %)

Ears

- Moderate conductive hearing loss

Eyes

- Peter's anomaly

- Glaucoma
- High myopia - partially sighted in functioning eye

Teeth

- Dental problems

- hypoplastic enamel

Skin

- Thin, transparent skin

Neck

- Short neck

Spine

- Unspecified herniation of tissue into the spinal canal

Limb

- Hyperextensible joints

Endocrine

- Sweats easily

 

Neurological Functional

- Posturing movements of face and arms

- Hypotonia

- Febrile convulsions

Development

- Speech delay

- Unsteady gait

- Moderate learning difficulties

Feeding

- Poor appetite

 

Personality

- Very curious, especially about machinery

Misc

- Fetal Alcohol Syndrome

- Mouths metal items

Laboratory Test and Findings

-so far Fragile X, FAS, Angelman Syndrome, Smith-Magenis Syndrome have been
excluded.  Chromosome testing normal.

Contact: Marion mom to Liam at marion@potsie.freeserve.co.uk

Any troubles with e-mails send to swanusa@undiagnosed-usa.org