a case of congenital bony deformities by dr brahma dev
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A Case of Congenital Bony Deformities – NNF 2013
A Case of Congenital Bony Deformities
DR BRAHMA DEV
Dr. B. C. Roy PGI of Pediatric Sciences, Kolkata
A Case of Congenital Bony Deformities – NNF 2013
A Case of Congenital Bony Deformities – NNF 2013
HISTORY
• A male term baby presented on 8th day of life• Non-consanguinous parents• Born by Normal vaginal delivery• Birth wt.- 2.8 kg• 1st issue• Antenatal period was uneventful• Antenatal USG not done• Deformities were noticed at birth• No Family H/o birth of any deformed child
A Case of Congenital Bony Deformities – NNF 2013
PHYSICAL EXAMINATION
• Clinically stable• Sucking was good• Multiple deformities present• Wt = 2.65kg• HC = 34cm• Length = 42.7 cm• US = 28cm, LS = 14.7 cm• US:LS = 1.9:1• No organomegaly• Hearing apparently normal
A Case of Congenital Bony Deformities – NNF 2013
FINDINGS ON HEAD TO TOE EXAM
A Case of Congenital Bony Deformities – NNF 2013
Short upper and lower extremitiesRhizomelic shorteningFlexion deformity at elbows and hips with stiff joints
A Case of Congenital Bony Deformities – NNF 2013
Shortening of limbs involving rhizomelic segment more severely
A Case of Congenital Bony Deformities – NNF 2013
Wide wristBowed forearmUlnar deviation of handsThumb is displaced proximally
A Case of Congenital Bony Deformities – NNF 2013
Talipes VarusMild Equinus
A Case of Congenital Bony Deformities – NNF 2013
Symmetric involvement on both sidesAdducted forefoot with severe inward curvature at the metatarsalsProminence on either side of knee
A Case of Congenital Bony Deformities – NNF 2013
No ear deformity Normal skull
A Case of Congenital Bony Deformities – NNF 2013
Deformed legsNo kyphosis or scoliosis
A Case of Congenital Bony Deformities – NNF 2013
Ptosis of Right Eye
A Case of Congenital Bony Deformities – NNF 2013
RADIOLOGICALSKELETAL SURVEY
A Case of Congenital Bony Deformities – NNF 2013
X Ray
Short Long bones
Flared metaphysis
Irregular metaphysis
Rounded Ileum
Small Sacro iliac notch
A Case of Congenital Bony Deformities – NNF 2013
X Ray
Rounded anterior end of body of vertebra
A Case of Congenital Bony Deformities – NNF 2013
X Ray
H shaped vertebral bodies
Wide anterior ends of ribs
A Case of Congenital Bony Deformities – NNF 2013
X Ray Skull
No cranio-synostosis
No abnormal shape of skull
SUMMARY
• Extremely short extremities
• Prominence at the end of long bones
• Bilateral Talipes(Clubfoot)• Normal Skull and Spine• Shortened long bones
with flaring at metaphysis on X Ray
A Case of Congenital Bony Deformities – NNF 2013
DISCUSSION
DIASTROPHIC DYSPLASIA
A Case of Congenital Bony Deformities – NNF 2013
Diastrophic Dysplasia
• Diastrophic dysplasia is a rare skeletal dysplasia that can be recognised at birth
• Incidence: 1 in 1,00,000 Live births • ‘Diastrophic’ in Greek means twisted or crooked• Diastrophism (in geology) is the process of
bending of earth’s crust• Maroteaux and Lamy in 1960 differentiated this
condition from achondroplastic newborn• Autosomal recessive
A Case of Congenital Bony Deformities – NNF 2013
Genetics
• Result from functional loss of sulfate ion transporter called Diastropic Dysplasia Sulfate Transporter(DTDST)
• DTDST is also called as SLC26A2( Solute carrier family 26, member 2)
• This gene is essential for coding a protein that is essential for the normal development of cartilage and for its conversion to bone
• Defect in this gene produces a spectrum of skeletal dysplasias.
A Case of Congenital Bony Deformities – NNF 2013
Clinical Findings
• Clubfoot – almost 100%• Short extremities – striking feature at birth• Short hands• Hitch hiker’s thumb - almost 100 %• Ulnar deviation of hands• Symphalyngism• Restricted joint movements – superficially may
resemble arthrogryposis multiplex• Cleft Palate and cleft lip – 25-30% cases
A Case of Congenital Bony Deformities – NNF 2013
What is Hitch Hiker ’s Thumb?
A Case of Congenital Bony Deformities – NNF 2013
A Case of Congenital Bony Deformities – NNF 2013
Hitch hiker’s thumb
Image: Nelson Textbook of Pediatrics. Copyright © 2013 Elsevier Inc.
A Case of Congenital Bony Deformities – NNF 2013Important Negative Findings
No Hitch Hiker’s thumb
No Cleft Palate
A Case of Congenital Bony Deformities – NNF 2013
Their case did not have hitch hiker thumb or foot abnormalities
A Case of Congenital Bony Deformities – NNF 2013
Evolution of Clinical features in Post natal period
• Cauliflower ear deformity– External ear become inflamed repeatedly with
cysitc masses during neonatal period spont. discharge and Resolution fibrotic and contracted external ear
• Scoliosis – develops after newborn period• Dislocation of hip and knee in many cases
A Case of Congenital Bony Deformities – NNF 2013
Ptosis of Right Eye
Ptosis was not found in any reported case
A Case of Congenital Bony Deformities – NNF 2013
Radiographic features
• Short and broad tubular bones• Flared metaphysis• Flat irregular metaphysis• Disproportionately short ulna and fibula
A Case of Congenital Bony Deformities – NNF 2013
Radiograph of hands in diastrophic dysplasia. The metacarpals and phalanges are irregular and short. The first metacarpal is ovoid.
Image: Nelson Textbook of Pediatrics. Copyright © 2013 Elsevier Inc.
A Case of Congenital Bony Deformities – NNF 2013
Differential Diagnosis
• Atelosteogenesis type II– Club foot and short limbs present – Lethal
A Case of Congenital Bony Deformities – NNF 2013
Antenatal diagnosis
• It can be done through sonographic evaluation to look for – Short limbs(micromelia involving all extremities)– Lateral projection of thumb
• Done at 16 -18 week
• Ref: Ultrasound Diagnosis of Fetal Anomalies– By Michael Entezami, Matthias Albig, Adam Gasiorek-
Wiens, Rolf Becker
A Case of Congenital Bony Deformities – NNF 2013
Antenatal diagnosis(contd)
• Molecular genetic diagnosis if DTDST mutation can be identified using DNA Linkage analysis from Chorionic Villous Sample
• However, USG is quite accurate
A Case of Congenital Bony Deformities – NNF 2013
Prognosis
• Neonatal Death is rare• Life expectancy and mental function are usually
normal• Morbidity is due to orthopedic deformity• Bony deformities are resistant to surgical treatment• Scoliosis – develops during early childhood• Short stature - Depending on degree of Scoliosis, adult
height ranges from 85 – 140 cm• Short stature and deformities can have immense
psychological impact and social implications
Projected future
Picture Courtesy: Dr. Sadulla Shaikh(PGT, Dr. B. C. Roy PGIPS)
Cauliflower Ear Deformity
A Case of Congenital Bony Deformities – NNF 2013
www.lpaonline.org
• Support group
For the little people, By the little people
A Case of Congenital Bony Deformities – NNF 2013
Diagnosis
DIASTROPHIC DYSPLASIA
A Case of Congenital Bony Deformities – NNF 2013
• Diastrophic dysplasia can be diagnosed antenatally by USG
• Clinical diagnosis in newborn period possible• Recurrance risk of 25%, so need of appropriate
counselling• Lifespan normal, but prognosis of deformities
poor• Need for Support group in our country for
disadvantaged populations
TAKE HOME MESSAGE
A Case of Congenital Bony Deformities – NNF 2013
THANK YOU