a case of congenital bony deformities by dr brahma dev

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