Williams syndrome: the role of orthopaedic surgeon

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Williams syndrome the role of orthopaedic surgeon

• E. Cristini1, C. Comelli2, A. Selicorni3, A.
  Fratoni3 and A. Memeo2
• 1 Traumatology department Maggiore Hospital
  Milan, 2 Orthopaedic Clinic University of Milan,
  3 Sindromologic department Pediatric Clinic
  University of Milan

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Main characteristics

• Incidence 1/20.000 born alive (30 new patients
  every years in Italy)
• Microdelection in long arm of 7 chromosome
• (exactly 7q11.23)
• Multisistemic involvement
• typical facial anomalies
• cardiovascular system
• anomalies of growth (peculiar growth charts)
• anomalies of mental development
• alteration of calcium metabolism
• endocrinological system
• musculoskeletal system
• kidney
• ocular problem
• celiac disease

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Physiopathology Aplo-insufficency of elastin gene
Abnormal qualitative-quantitative production of
elastin
Predisposition to Joint hyperlaxity Orthopaedic
complications
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Our experience

• Patients of Sindromologic Department of I
  Pediatric Clinic De Marchi Milan
• 98 patients 41 female and 57 male
• Age mean 12,4 y (6 months - 29 years)
• Time of the follow-up mean 2,9 years (1-10
  years)

Our purpose

• Monitoring of the well known orthopaedic
  diseases of the syndrome
• Evaluate the possible evidentiation of
  orthopaedic problems related to the disease
• Improve patients and family quality of life

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Orthopaedic features

• Hyperlordosis
• Patellofemoral syndrome
• Hyperlaxity
• Muscular hypotonia
• Clinodactyly

• Kyphosis
• Scoliosis
• Flat foot
• Valgus knee
• Sinostosis radius-ulna

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When planning orthopaedic visit?

• Evaluation of rachis, foot and knee
• Mainly for rachis
• Foot, knee and rachis
• Knee and rachis

• First visit 3 years
• Second visit 5-7 years
• Third visit 9-11 years
• Fourth visit 14 years

Every year if necessary
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What we can do?

• Flat foot non-surgical treatment, surgery if
  pain, limitation of abitual activities and severe
  degree
• Valgus knee non-surgical treatment (i.e.
  physiotherapy)
• Patellofemoral syndrome strenghtening exercices
  of quadriceps, stretching of knee flexors,
  swimming and surgery only in permanent
  dislocation
• Scoliosis physiotherapy, orthosis and surgery in
  selected cases
• Kyphosis physiotherapy and orthosis

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• Difficulties in the treatment are
• Presence in many patient of serious medical
  problem
• Delayed growth
• Delayed mental development
• Low compliance and acceptance of a serious
  physiotherapic program (pre and post-surgery)
• Difficulties to improve muscular tone

For these reason we prefer to reserve a surgical
procedure only in severe degree of all
orthopaedics problems
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• But our challenges in the treatment are
• Prevent diseases worsening
• Limit permanent deformity
• Increase muscular tone

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• What we generally observe is a delay in
  acquisition of normal growths steps so

The role of paediatric orthopaedic surgeon
doenst finish with adolescence