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


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


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


FINDINGS ON HEAD TO TOE EXAM


Short upper and lower extremitiesRhizomelic shorteningFlexion deformity at elbows and hips with stiff joints


Shortening of limbs involving rhizomelic segment more severely


Wide wristBowed forearmUlnar deviation of handsThumb is displaced proximally


Talipes VarusMild Equinus


Symmetric involvement on both sidesAdducted forefoot with severe inward curvature at the metatarsalsProminence on either side of knee


No ear deformity Normal skull


Deformed legsNo kyphosis or scoliosis


Ptosis of Right Eye


RADIOLOGICALSKELETAL SURVEY


X Ray

Short Long bones

Flared metaphysis

Irregular metaphysis

Rounded Ileum

Small Sacro iliac notch


X Ray

Rounded anterior end of body of vertebra


X Ray

H shaped vertebral bodies

Wide anterior ends of ribs


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


DISCUSSION

DIASTROPHIC DYSPLASIA


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


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.


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


What is Hitch Hiker ’s Thumb?


Hitch hiker’s thumb

Image: Nelson Textbook of Pediatrics. Copyright © 2013 Elsevier Inc.

http://www.elsevier.com/

A Case of Congenital Bony Deformities – NNF 2013Important Negative Findings

No Hitch Hiker’s thumb

No Cleft Palate


Their case did not have hitch hiker thumb or foot abnormalities


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


Ptosis of Right Eye

Ptosis was not found in any reported case


Radiographic features

• Short and broad tubular bones• Flared metaphysis• Flat irregular metaphysis• Disproportionately short ulna and fibula


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.

http://www.elsevier.com/


Differential Diagnosis

• Atelosteogenesis type II– Club foot and short limbs present – Lethal


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


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


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


www.lpaonline.org

• Support group

For the little people, By the little people


Diagnosis

DIASTROPHIC DYSPLASIA


• 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


THANK YOU

a case of congenital bony deformities by dr brahma dev

Health & Medicine

reported case

ray short long bones

short ulna

short limbsmicromelia

short extremities prominence

ear deformity normal

short limbs present

diastrophic dysplasia