This document provides an overview of skeletal dysplasias, which are disorders affecting bone and cartilage development. It defines key terminology, describes common causes and classifications. Several specific dysplasias are discussed in detail, including Achondroplasia (the most common form of dwarfism), Hypochondroplasia, Thanatotrophic dysplasia, Kniest dysplasia, SED, MED, Cleidocranial dysplasia, and Osteogenesis imperfecta. For each, the document outlines genetic causes, clinical features, radiographic findings, and orthopedic considerations.
General approach to patient with genetic disorders and skeletal dysplasias. Approach to children with dwarfism and classification into various categories and further management of the cases based upon the recent knowledge of genetics and recent advances.
Dr Ashutosh Ojha Shiv Narayan Singh memorial oration 2020Dr Ashutosh Ojha
It is the Oration ,I gave at Patna Medical College on Foundation Day Celebration on 24 Feb2020.
Clinical Medicine is not taught much in Medical College and less used in advent of newer Tests .
To Remind The value , I gave this talk in Name of Legendary Physician
achondroplasia is genetic disorder that results in dwarfism
problem is not in forming cartilage but in converting it to bone.
This disorder usually results in the following: An average-size trunk; Short arms and legs, with particularly short upper arms and upper legs; Short fingers.
Mutation in FGFR3 on chromosome 4 is responsible for achondroplasia.
Different types and categoroes of compressive myelopathy have been explained.
Their clinical findings, investgating features and radiological features have been discussed.
General approach to patient with genetic disorders and skeletal dysplasias. Approach to children with dwarfism and classification into various categories and further management of the cases based upon the recent knowledge of genetics and recent advances.
Dr Ashutosh Ojha Shiv Narayan Singh memorial oration 2020Dr Ashutosh Ojha
It is the Oration ,I gave at Patna Medical College on Foundation Day Celebration on 24 Feb2020.
Clinical Medicine is not taught much in Medical College and less used in advent of newer Tests .
To Remind The value , I gave this talk in Name of Legendary Physician
achondroplasia is genetic disorder that results in dwarfism
problem is not in forming cartilage but in converting it to bone.
This disorder usually results in the following: An average-size trunk; Short arms and legs, with particularly short upper arms and upper legs; Short fingers.
Mutation in FGFR3 on chromosome 4 is responsible for achondroplasia.
Different types and categoroes of compressive myelopathy have been explained.
Their clinical findings, investgating features and radiological features have been discussed.
Similar to skeletaldysplasias-170827143031.pptx (20)
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
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Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
2. Dr.Virinderpal Singh Chauhan
Scope
• Definition + Terminology
• Pathogenesis
• Classification
• Some dysplasias in Detail
– Achondroplasia
– Hypochondroplasia
– Thanatotrophic dysplasia
– Kniest Dysplasia
– SED
– MED
– Cleidocranial Dysplasia
– Osteogenesis Imperfecta
3. Dr.Virinderpal Singh Chauhan
Definition + Terminology
• A.k.a Osteochondrodysplasias
• “Dys” – Disordered “Plassein” – To form
• Disorders of growth and development that affect bone and
Cartilage.
• Rare – 1:4000/5000 births
• Most result in short stature …….”??Dwarfism”
– Proportionate
– Disproportionate
• Short Limbed
• Short Trunk
5. Dr.Virinderpal Singh Chauhan
Pathogenesis
• Usually categorised into 3
……> ½ of cases
– Genetically Inherited
• Dorminant / Recessive / X-linked
– Spontaneous Mutations
– Secondary to exposure to toxic substances or
infectious agents resulting in disruption of normal
skeletal dvt
• Mechanisms
– Alteration in transcription of or intra or Extracelluar
processing of structural molecules of skeleton
– Defects in receptor/ Signal transduction pathways of
skeletal differentiation + Proliferation
6. Dr.Virinderpal Singh Chauhan
Classification
• Initially based on clinical manifestation /
radiological findings
• Rubin et al
– Acc. To anatomical distribution of bone changes
– Most of mutated genes encode proteins involved in
growth plate
• 1997
– International Nomenclature & Classification of
Osteochondrodysplasia (OCD)
• Gene + Protein defects included
• Modified in 2012 into 33 groups (OCD) & 3 groups dystocias
8. Dr.Virinderpal Singh Chauhan
Examples of Mutations
• Resting Zone
– Sox 9 mutation = camptomelic dysplasia….short
curved bone ass with sex reverse (female genetalia
not like male)
• Prolif. Zone
– FGFR3 mutation…….achondroplasia /
Hypochondroplasia / Thanatophoric dysplasia
• Hypertrophic Zone
– PTHR 1……….MED
10. Dr.Virinderpal Singh Chauhan
Prenatal Diagnosis
• Currently popular, usually 2nd Trimester
• U/s Shows shortening of skeleton
– Femur length used………..Most Common
– Other – Skull, Spine
• Additional testing can be done by Chorionic Villous Sampling +
Mutation Analysis
• Problems
– Skeletal Dysplasias Rare (Similar xtics but diff. molecularly)
– Some not apparent during 2nd trimester (only evident in 3rd or after birth)
– U/s is a limited tool (Sensitivity 40-60%, experience)
12. Dr.Virinderpal Singh Chauhan
• Commonest form of Dwarfism…….approx 1.5 : 10000 live births
• Genetics
– Autosomal Dorminant. 80-90% due to spontaneous mutation
– Risk increases with increasing paternal age (>36 yrs)
– Mutations in the gene for FGFR3. (gly for arg)
– FGFR overexpression also inhibits PTHrP causing abnormal apoptosis of chondrocytes
– The common mutations cause a gain of function of the FGFR3 gene, resulting in :
↓ Endochondral ossification.
↓ Proliferation of chondrocytes in growth plate cartilage.
↓ Cellular hypertrophy.
↓ Cartilage matrix production.
Achondroplasia
13. Dr.Virinderpal Singh Chauhan
• Short Stature………Seen at Birth
– Truncal Height Normal, Arm Span + Standing height reduced
– Rhizomelic Micromelia
– Fingertips reach Greater Trochs (normal – Mid thigh)
– Height approx 4 ft 3” males, 4ft 1” females
• Arms & Legs
– Trident Hand – Inability to approx extended middle + ring finger
– Star fish Hand – All digits of equal length
– Radial Head subluxations………..may lead to elbow contractures
– Bowed Legs (Genu varum)………Occasionally
– Relative shortening of tibia compared to fibula
– Coxa Breva like appearance due to shortening of femoral neck
• Face
– Enlarged Head with frontal bossing and mandibular protrusion
– Mid face hypoplasia ( Dental crowding / Otitis Media / Flat nose bridge / Obst. Apnea)
Clinical Features - Achondroplasia
14. Dr.Virinderpal Singh Chauhan
• Spine
– Kyphosis at Thoracolumbar jxn
• Usually corrects within a few months of ambulation
– Excessive Lordosis
• Growth & Development
– Intelligence Normal, Delayed Motor Dvt due to combo
of
• Hypotonia
• Hyper-extensible joints esp of lower limb
• Mechanical difficulty balancing large heads
• Foramen Magnum stenosis with brain stem
compression……..can be fatal
Clinical Features - Achondroplasia
15. Short Stature, Fingertips
reaching to the level of
hips
Frontal bossing,
enlargement of head
Star fish hand, Trident
hand
Dr.Virinderpal Singh Chauhan
16. Radiographic Features
, small sciatic notches,
width of pelvic inlet is
• Short tubul e in bony diameter &
density.
• Metaphyse nvolved.
• Growth plat tal femur).
• Metacarpal, hort & thick.
• Pelvis - bro
horizontal &
• Shape of p
greater tha
ar long bones, with a relative increas
s - widened & flared, epiphyses - uni
es - U or V shaped (best seen at dis
metatarsal, & phalangeal bones - s
ad & flat, squared iliac wings
notched acetabulum.
elvis - champagne glass – as
n its depth.
Dr.Virinderpal Singh Chauhan
17. Radiographic Features
• Widened proxim oral necks
are short - abno
• Ossification of p ed to more
than 1 year of ag
• Greater trochan
ossification - d
periosteal
nce.
r trochanter
• True coxa vara i
- appearance of
al femoral metaphyses, short fem
rmalities in longitudinal growth.
roximal femoral epiphysis is delay
e.
ter is normal in size as formed by
ecrease in articulotrochanteric dista
s absent, but overgrowth of greate
varus.
•
Dr.Virinderpal Singh Chauhan
18. Radiographic Features
nce from L1-L5 (Normally
40% thicker than normal
pearance
ral segment
• Spine
– Narrowing of intrapedicular dista
this increases)
– Pedicles in achondroplasia 30 –
– Vertebral Bodies – Scalloped ap
sis seen up to sac
en Magnum
frontal region to accommodate enlarging
– Lumbar Lordo
• Skull
– Smaller Foram
– Protrusion of
brain
Dr.Virinderpal Singh Chauhan
19. Dr.Virinderpal Singh Chauhan
Orthopedic Considerations
• Most related to spine
• Craniocervical Stenosis
– Commonest cause of mortality. Sympts include:
• Hypotonia
• Sleep Apnea
– Central – compression of upper cervical spinal cord
– Obstructive – upper airway obst. due to midface hypoplasia
• Hydrocephalus
– Rare in achondroplasia, communicating type
• Thoracolumbar kyphosis
– Usually seen in almost all children at thoracolumbar jxn
– As child learns to walk, muscle tone + trunk control improves =
resolution
20. Dr.Virinderpal Singh Chauhan
Management of Achondroplasia
• Usually centered around mx of complications
• Spinal Kyphosis
– Non Op… Bracing
– Op………..Ant. Corpectomy + posterior fusion (Kyp >60 by 5yrs)
• Lumbar Stenosis
– Non Op….Wt Loss, Physical therapy, Corticosteroid injections
– Op…………Laminectomy + fusion
• Foramen Magnum Stenosis
– Urgent Decompression
• Genu Valgum
– Tibial osteotomies + Hemiepiphysiodesis
• Controversial
– Growth Hormone therapy + Surgical lengthening of Limbs
21. Dr.Virinderpal Singh Chauhan
Hypochondroplasia
• Less severe form of dwarfism
• Autosomal Dorminant, 50% chance of passing to
offspring
• Mutation – FGFR3 but difference in affected a.a
(tyrosine)
• Mild forms usually undetected at birth
• Foramen Magnum stenosis + thoracolumbar stenosis
rare
22. Dr.Virinderpal Singh Chauhan
Hypochondroplasia
• Ht discrepancy less than achondroplasia
• Less pronounced facial xtics
• Mesomelic limbs
• <10% associated with Mental Retardation (unlike
Achondroplasia)
• Rx
– Surgery rare
– Growth Hormone can have +ve impact……controversial
23. Dr.Virinderpal Singh Chauhan
Thanatotropic Dysplasia
• Most lethal form of dwarfism
• Mutation – FGFR gene
• Dx fatal, all cases are spontaneous mutations
• Severe platyspondyly is the xtic feature on both u/s
and plain xrays
• Severe brain malformations seen
• Death due to cardioresp failure
24. Kniest Dysplasia
• Rare
• Autosomal dorminant
• Defect – COL1A1
• Abnormality – Type 2 collagen
• Presentation
– Disproportionate Short trunk dwarfism
– Enlarged Joints and stiffness
– Scoliosis / Kyphosis
– Cleft lip
– Flat face
– Prominent eyes due to shallow sockets
– Bell Shaped chest
Dr.Virinderpal Singh Chauhan
25. Dr.Virinderpal Singh Chauhan
Kniest Dysplasia
• Orthopedic Manifestations
– Short stature
– Club foot
– Disprop short trunk dwarfism
– Early OA
– Joint stiffness / contractures
– Scoliosis / Kyphosis
– Hypoplastic pelvis
• Medical manifestations
– Respiratory complications
– Otitis Media with hearing loss
- Cleft Palate
- Retinal Detachment
26. Kniest Dysplasia
earance of bone cartilage
one cartilage
oint contractures
rocedures for early hip degenerative
• Imaging
– Osteopenia
– Dumbell shaped metaphyseal bone
– Coxa vara
– Genu valgum
– Swiss cheese app
• Small holes in b
• Rx
– Early therapy for j
– Reconstructive p
arthritis
Dr.Virinderpal Singh Chauhan
27. Dr.Virinderpal Singh Chauhan
Spondyloepiphyseal Dysplasia
• Mutation – COL2A1
• 2 types
– SED Congenita – Autosomal dorminant – severe
– SED Tarda – X-linked, Milder form
• Usually affects vertebrae and epiphysis
28. Orthopedic Manifestations
• Short
• Short
• Barre
• Angu
• Lum
– D
– G
• Wadd
• Club
stature
neck, widespread eyes
l Shaped chest
lar deformities esp Genu Valgum
bar lordosis
ue to hip flexion contractures
ive abdomen a protrusional app
ling gait – coxa vara
foot
ciated conditions
• Asso
– Cleft Palate
– Retinal detachment
– Nephrotic syndrome - Tarda
- Cataracts
- Deafness
Dr.Virinderpal Singh Chauhan
29. • Delaye
– Fe
•
– Wh
• Coxa
• Platys
• Kypho
• Odont
– Che
Xrays
rance of epiphysis
s not seen until pt = 5ys
/12
lattened & irregular epiphysis
plasia / os odontoideum
nto-axial instability
d appea
moral head
Normal – 4-6
en seen – f
Vara
pondyly
scoliosis
oid hypo
ck for atla
Delay in ossification of femoral heads + coxa vara
Platyspondyly (flattened vertebrae)
Severe d
D
e
r
.
g
V
e
i
n
r
i
e
n
r
d
a
e
t
i
r
v
p
e
a
a
lrSti
h
n
r
gi
h
t
i
s
C
1
h
5
ay
u
r
h
o
al
n
dwith dislocated hips
30. SED
• Rx
– Atlantoaxial instability a concern
• Early occipitocervical spondylodesis
– Coxa Vara
• Valgus corrective osteotomy if angle <100 or is
progressive
– Scoliosis
• Manage operatively if angle>40
Dr.Virinderpal Singh Chauhan
31. Multiple Epiphyseal Dysplasia (MED)
– Dwarfism xtised by delayed + irreg ossification at
multiple epiphysis
– Genetic
• Defect – COMP (Cartilage Oligomeric Matrix Protein) gene
• Mutation – COL9A1/A2/A3
– Ass. With Type 2 collagenopathy since type 9 acts as link points for
type 2
• Autosomal dorminant
• Autosomal recessive – rare (Early OA/Clubfoot/multiple layered
patella/brachydactyly)
Issue – Failure of formation of secondary ossification centre
Femoral + humeDrr
.aV
i
r
li
n
hd
e
r
ep
a
alS
di
n
g
shC
ch
oa
u
mh
a
n
monlyaffected.
32. Dr.Virinderpal Singh Chauhan
• Types
– Fairbank
– Ribbing – milder form
• Clinically
– Short limbed dwarf
– Joint pains – often don’t manifest until 5-14 yrs
– Waddling gait
– Flexion contractures of knee/elbow
– SPINE + PELVIS - NORMAL
33. Xrays
• Pelvis
– Bilateral epip
• Mimics Pe
– In MED
• Knee
– Valgus knee
– Double Lay
• Due to irre
– Tibial slant si
hy
rthe
– its
ered
g o
gn
d m
seal defects
s
simultaneous + bilateral + acetab changes seen
Patella
ssification of patella
etacarpals/metatarsals
• Hand & Foot
– Short, stunte
– Hyperextensible fingers
Irregular ossification + Double
layered patella
Dr.Virinderpal Singh Chauhan
34. Dr.Virinderpal Singh Chauhan
Mx of MED
• Ortho rx rarely necessary in children
• Osteotomies to correct angular deformities
esp around knee
• Degenerative Arthritis – symptomatic rx
– ?Early THR
35. Cleidocranial Dysplasia
• Affects bones of membranous origin
• Defect – RUNX2/ CFBA1 gene (Chr 6)
– Codes for osteoblastic specific transc. Factor req for osteoblastic
differentiation
• Features
– Short Stature
– Skull bossing (front
– Maxillary region u
• Maxillary microgn
– Clavicles partially o
• Cause shoulders t
• Shoulders can be
al/parietal/occipital)
nderdvt
athia, exophthalmos
r completely absent (10%)
o drop & neck to appear large
approximated
Absent Clavicles
Dr.Virinderpal Singh Chauhan
36. Cleidocranial Dysplasia
• Pelvis h
• Coxa
• Increa
houlder
y if neck
narrow, hips may be unstable at birt
Vara + Trendelenburg Gait
sed incidence of scoliosis
implications
x for clavicles
pulothoracic arthodesis for symptomatic s
xn
a Vara rx with valgus rotational osteotom
ft angle <100
• Ortho
– No r
– Sca
dysf
– Cox
sha
– C/s often required
Dr.Virinderpal Singh Chauhan
37. Dr.Virinderpal Singh Chauhan
Osteogenesis Imperfecta
• A.k.a Fragilitus Ossium / Brittle Bone Dx
• Pathogenesis
– Impaired mutation Type 1 collagen
– Mutation – COL1A1 & COL1A2 genes
– Impaired cross links preventing production of
polymerized collagen
– Fracture Healing not impaired with large amounts of
callus formation
38. Clinical Manifestations
• Bone fragility and fractures
fractures heal in normal fashion initially
but the bone is does not remodel
can lead to progressive bowing
• Ligamentous laxity
• Short stature
• Scoliosis
• Codfish vertebrae (compressionfx)
• Olecranon apophyseal avulsion fx
Dr.Virinderpal Singh Chauhan
40. Clinical Diagnosis
• Symptoms
– Mild Cases – multiple #s during childhood
– Severe - #s at birth. Maybe fatal
• Signs
– Sabre Shin Appearance
– Bowing of bones
– Scoliosis
Dr.Virinderpal Singh Chauhan
41. Dr.Virinderpal Singh Chauhan
Classification of OI - Sillence
• Type 1
– Mildest
– Presents at Pre-school age
– Autosomal Dorminant
– Blue Sclera
– Hearing deficit in 50%
– Avulsion #s common due to decreased tensile
strength of bone
• Type 2
– Autosomal Recessive
– Lethal in perinatal period
– Blue Sclera
42. Classification of OI - Sillence
• Type 3
– Autosomal recessive
– Normal Sclera
– #s at birth
– Progressive short statu
– MOST Severe survivab
re
le form
– Xtic triangular face due to large skull and underdeveloped facial
bones
• Type 4
– Moderately severe
– Autosomal Dorminant
– Bowing of bones + Vertebrae #s common
– Normal Hearing
– White Sclera
Type 5,6,7 added to original
classification.
No real mutation but Abnormal
bone on microscopy
5 – Hypertorphic Callus after #
Dr.Virinderpal Singh Chauhan