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Professionals

Other Services

Connective Tissue Dysplasia Clinic (CTD)


Telephone: (02) 9845 3273
Location: Children's Assessment Centre (CAC) Level 3

Method of referring

Telephone contact with secretary followed by written referral to doctor. Check via phone which doctor patient is to see (specific requests can be discussed). A genetic counsellor will usually contact new referrals prior to clinic visit.

Clinic function

Diagnosis, assessment and rehabilitation management planning for patients with heritable disorders involving bones, joints and other connective tissues eg skeletal dysplasias, osteogenesis imperfecta, storage disorders, Ehlers-Danlos and Marfan syndromes. New patients suspected of having a disorder with low bone density should have bone densitometry booked for the same day, telephone (02) 9845 2898

Urgent referrals

Contact the hospital switchboard, (02) 9845 0000 and page on-call Fellow in Genetics or Clinical Geneticist

AppointmentsInitial visit - Ph (02) 9845 3273
Re-visit - Ph: (02) 9845 3205
Consultants *Prof D Sillence
Dr L Adès
Dr F Collins
Dr J Ault (Rehab)

Neuromuscular Management (with Rehabilitation Department)


Telephone: (02) 9845 3273
Fax: (02) 9845 3082
Email: michelm3@chw.edu.au
Website: http://www.inmr.com.au
Location: Physiotherapy Department Level 2

Method of referring

The NMMC is part of the neurogenetics clinic. Children/adolescents are first seen in the neurogenetics clinic and then referred to the MMNC. Telephone contact with secretary followed by written GP referral to doctor.

Clinic function

A management clinic for children with neuromuscular disorders, including muscular dystrophies, myotonic dystrophy, spinal muscular atrophy and peripheral neuropathies. Children referred to this clinic will usually have been seen previously through the Neurogenetics clinic or by a neurologist, but direct referrals from paediatricians can also be accepted.

Urgent referrals

Page one of the above consultants or Lisa Smith (associate genetic counsellor) via the hospital switchboard, (02) 9845 0000

AppointmentsPh (02) 9845 3273
Consultants *Dr M-C Waugh (Rehabilitation)
Dr K Jones (Neurogenetics)
Dr K North (Neurogenetics)
Clinic daysWednesday, 2 pm, Monthly


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