Syndromes: means run together

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Syndromes means run together

• When several relatively uncommon anomalies occur
  in a patients and1. if they are result from the
  same causes2. or occur in the same pattern in
  other children

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Neurofibromatosis

• NF1 von Recklinghausen
• NF2 Central neurofibromatosis

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Neurofibromatosis type1

• Diagnosis criteria
• At least two of following are necessary
• At least six café-au-lait spot, larger than 5 mm
  in children and larger than 15 mm for adult
• Two neurofibroma
• Flecking in the axillae or inguinal
• An optic glioma
• At least two lisch nodules( hamartoma of iris)
• A distinctive Osseous lesion
• A first degree relative with NF1

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Neurofibromatosis type1

• Incidence 1 of 3000 newborn
• Autosomal dominant, 50 sporadic mutation
• Defect in a protein called neurofibrillin ,
• Neurofibrillin act as a tumor suppressor, it is
  expressed at higher level in the neural crest
  during development

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Neurofibromatosis 1

• Scoliosis
• Limb overgrowth
• Pseudoarthrosis

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Neurofibromatosis 1

• Local gigantism
• Any children with focal gigantism,
  having neurofibromatosis until proven otherwise

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Scoliosis in NF1

• Pattern of scoliosis
• Idiopathic curve
• Dystrophic short, sharp, single thoracic curve
  involving 4 to 6 segments

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Pseudoarthrosis in NF 1

• usually affect tibia, with a anterolateral bowing
  in infancy, fracture usually follow with nonunion
  and pseudoarthrosis
• Ulna, radius, femur and clavicle may affected

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Larsen Syndrome

• Congenital dislocation of large joints, flat
  face, liagamentous laxity
• Bilateral dislocation of ( hips, knees, elbows
  and clubfeet)
• Double ossification center of calcaneous
• Cervical kyphosis and forward subluxation
• Normal intelligence

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Down syndrome

• The most common malformation in human
• Trisomy chromosome 21
• Incidence 1 per 660 live birth, closely related
  to maternal age
• Mother agelt30 year risk1 per 5000
• Mother agegt35 year risk1 per 250

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Clinical findings

• Flattened face
• Mental retardation
• Congenital heart disease50
• Infection are common
• Premature aging
• Musculoskeletal problems

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Musculoskeletal problems

• Ligamentous laxity and joint hypermobility
• Atlantoaxial instability 10
• Scoliosis 50
• Hip dysplasia and slipped capital femoral
  epiphysis
• Genu valgum with subluxation and dislocation of
  patella
• Flexible pes planovalgus

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Mucopolysaccharidosis

• Groups of genetic disorders with
  mucopolysaccharide excretion in the urine
• Incidence 1 per 10000
• Common finding
• Short stature
• Joint stiffness
• Coarse face
• Oval vertebral body with anterior beaking
• Wide pelvis, unossified femoral head cartilage,
  coxa valg

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Typing of MPS MPS1
Hurler/Scheie MPS2 Hunter MPS3 Sanfillipo
MPS4 Morquio MPS5 Formerly scheie
disease MPS6 Moroeux-Lamy MPS7 sly
MPS8
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Mucopolysaccariosis

• Pathbiology Deficiency of lysosomal enzyme that
  degrade the sulfated glycosamine glycans
• Incomplete degradation product accumulates in the
  tissues, brain, viscera and joints
• The child normal at birth, chemically detectable
  by 6 to 12 months and clinically by 2 years

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Mucopolysaccharidosis Hurler/Scheie

• Deficiency L-iduronidase
• That degrade dermatan sulphate and haparan
  sulphate
• Hurler form progressive mental retardation,
  multiple skeletal deformity, death before 10
  years
• Scheie form Joint stiffness , no mental
  retardation
• Musculoskeletal deformity
• Malalignment of the limbs ( genu valgum)
• Upper cervical instability
• Carpal tunnel and trigger fingers

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Mucopolysaccharidosis type4 Morquio

• Incidence AR, 3 per 1,000,000
• Three subtypes ,all are caused by enzyme defects
  degradation of Keratan sulphate
• MPS 4A (severe form) short-trunk dwarf, corneal
  opacity.
• MPS 4B(intermediate)
• MPS 4C(mild)

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Morquio syndrome

• Normal IQ
• Short-trunk dwarf with ligamentous laxity
• Hip Progressive acetabular dysplasia and early
  DJD
• Knee genu valgum
• C1-2 instability, soft tissue mass in spinal
  canal
• Progressive platyspondylia and thoracic kyphosis

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Marfan syndrome

• Incidence AD, mutation 15-30,1 per 10,000
• Cardiovascular System Dilatation of ascending
  aorta, mitral vale insufficiency
• Eyes Dislocted lens, severe myopia
• Musculoskeletal arachnodactyly, pectus
  deformity, scoliosis

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Ehlers-Danlos Syndrome

• A family of disorders with defect in collagen
  metabolism characterized by hyperextensibility of
  skin, joint hypermobility, early bruisability
• Orthopaedic problems joint instability,Joint
  laxity, arthralgia and scoliosis

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Typing of Ehler-danlos

• Type 1 gravis
• Type 2 mitis
• Type3 benign familial hypermobility
• Type 4 Vascular or ecchymotic
• Type 5 skin hyperextensibility
• Type 6 oculr-scoliotic
• Type 7Arthrochalasias
• Type 8 usual stigmata with peiodontal disease

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