ELLIS – VAN CREVELD SYNDROME

ELLIS – VAN CREVELD ELLIS – VAN CREVELD SYNDROMESYNDROME

DR MANDAR DR MANDAR

SPAN HOSPITALSPAN HOSPITAL

•VAIBHAVI S HIREMATHVAIBHAVI S HIREMATH

•7 ys / FEMALE7 ys / FEMALE

•1 st issue of non 1 st issue of non consangunous marriageconsangunous marriage

ComplainsComplains

•Fever - 15 daysFever - 15 days

•Cough - 8 daysCough - 8 days

•BREATHLESSNESS – 2 daysBREATHLESSNESS – 2 days

PAST HISTORYPAST HISTORY

•Repeated episodes of LRTI Repeated episodes of LRTI

•No H/O any contact with No H/O any contact with Tb patientsTb patients

BIRTH H/OBIRTH H/O

•Full term normal deliveryFull term normal delivery

•Birth wt was 2.8 kg Birth wt was 2.8 kg

•No h/o any NICU admission No h/o any NICU admission

•NO DELAY IN MENTAL AND NO DELAY IN MENTAL AND MOTOR MILE STONEMOTOR MILE STONE

DIET h/oDIET h/o

•ADEQUATEADEQUATE

Developmental H/ODevelopmental H/O

Antropometry Antropometry ActualActual•Head cir- 49cmHead cir- 49cm

•Chest cir-52cmChest cir-52cm

•Ht – 84 cmHt – 84 cm

•Wt – 9.5 kgWt – 9.5 kg

•Us/Ls-1.3:1Us/Ls-1.3:1

•Arm span< htArm span< ht

ExpectedExpected

•>51cm>51cm

•<3per<3per

•<3per<3per

•Us >LsUs >Ls

InterpretationInterpretation•Wt for age – IAP classificationWt for age – IAP classification

- grade 5- grade 5

•Ht for age – Mac-Clarin classHt for age – Mac-Clarin class

- grade 3 - grade 3

•Mid parentral ht – less Mid parentral ht – less thanthan

2 SD2 SD

EXAMINATIONEXAMINATION

•CONCIOUS, COPERATIVECONCIOUS, COPERATIVE

•VITALSVITALS

RR- 54/minRR- 54/min

HR- 108/minHR- 108/min

Head to Toe examinationHead to Toe examination

•Malformation of tooth Malformation of tooth

• POLYDACTYLYPOLYDACTYLY

•CHEST DEFORMITIESCHEST DEFORMITIES

•NO S/O SKIN CHANGES & NO S/O SKIN CHANGES & NUTRITION DEFNUTRITION DEF

SYSTEMIC EXAMINATIONSYSTEMIC EXAMINATION

•RESPIRATORY SYSTEMRESPIRATORY SYSTEM

s/o respiratory distress +s/o respiratory distress +

B/L crepts + in lower B/L crepts + in lower lobelobe

Cardio vascular examinationCardio vascular examination

•MitralMitral area- sarea- s11 s s22 –normal –normal

•Pulmonary area-split sPulmonary area-split s22

split is split is present both in insiration present both in insiration and expirationand expiration

Cont..Cont..

•Early systolic murmur is Early systolic murmur is heard , grade 3 , radiating heard , grade 3 , radiating to the precordiam to the precordiam

PER ABDOMENPER ABDOMEN

•Soft , non tender, no Soft , non tender, no organomegaly, BS+organomegaly, BS+

•CNS- WNLCNS- WNL

INVESTIGATIONINVESTIGATION

•CBC- Hb-7.8gm%CBC- Hb-7.8gm%

Tlc-18600/cummTlc-18600/cumm

plat-3,35,000/cummplat-3,35,000/cumm

Esr- 36mm of hgEsr- 36mm of hg

•Chest xray- plethoric lung,Chest xray- plethoric lung,

B/L lower lobe B/L lower lobe patchpatch

WRIST XRAY FOR BONE AGEWRIST XRAY FOR BONE AGE

• BA= CABA= CA

OTHER INVESTIGATIONOTHER INVESTIGATION

•Sr calciam, ALP, Phosp- wnlSr calciam, ALP, Phosp- wnl

•Other investigation- Other investigation-

sr electrolyte, blood cul ,sgpt sr electrolyte, blood cul ,sgpt

Echo reportEcho report

•Large ASD, ejection Large ASD, ejection fraction normal, require fraction normal, require surgical correctionsurgical correction

(as adviced by (as adviced by cardiologist)cardiologist)

Approach to short statureApproach to short stature

Calculate MPH

Childs height at 18 yrs with in 2 SD of MPH

Childs height at 18 yrs< -2 SD of MPH

Genetic short statureBone Age

Delayed Advanced

US: LS Ratio US: LS Ratio Rare:1JRA

2Hemophilia3Androgen/ Estrogen Exposure

Proportional Disproportional

US> LS US<LS1IUGR2Dysmorphic syndrome

3Chromosomal syndrome4Turner’s syndrome

Proportionate Disproportionate

1Constitutional Delay2GH def

3Psychosocial Short stature.

4Chronic Systemic dis.5Malnutrition

Hypothyroidism.Rickets

Normal

Height< 3rd centile of reference range

D/D OF US> LSD/D OF US> LS

• AcondroplasiaAcondroplasia

• HypocondroplasiaHypocondroplasia

• Osteogenesis imperfectaOsteogenesis imperfecta

• RicketsRickets

• Ellis van creveld Ellis van creveld syndrome syndrome

OTHER FEATURES OTHER FEATURES

• POLYDACTYLYPOLYDACTYLY

• CONGENITAL HEART DISEASECONGENITAL HEART DISEASE

• MALFORMED TOOTHMALFORMED TOOTH

• ABNORMAL SHAPE OF CHESTABNORMAL SHAPE OF CHEST

• SHORT LIMBSHORT LIMB

FINAL DIAGNOSISFINAL DIAGNOSIS

ELLIS VAN CREVELDELLIS VAN CREVELD

ADVICEADVICE

• GENETIC STUDYGENETIC STUDY

Ellis-vanEllis-van CreveldCreveld SyndromeSyndrome

((chondroectrodermalchondroectrodermal dysplasiadysplasia))

CLINICAL FEATURECLINICAL FEATURE

• Short statureShort stature

•Short forearm and lower Short forearm and lower legleg

•Narrow chestNarrow chest

CONT…CONT…

• PolydactylyPolydactyly

•Unusually formed teethUnusually formed teeth

•Congenital heart disease(ASD)Congenital heart disease(ASD)

•Autosomal recessive Autosomal recessive pattern inheritancepattern inheritance

Prevalance Prevalance

• 1 in 60,000 to 2,00,0001 in 60,000 to 2,00,000

•Common in – Amish Common in – Amish population, Pennsylvania, population, Pennsylvania, Native population of Native population of australiaaustralia

GeneticsGenetics

•Mutation in EVC and EVC2 Mutation in EVC and EVC2 genesgenes

•ECV gene maps on ECV gene maps on cromosome 4 short armcromosome 4 short arm

Radiological diagnosisRadiological diagnosis• Acromesomelia (relative shortening of Acromesomelia (relative shortening of

the distal and middle segment of the the distal and middle segment of the limbs) - Most prominent in the hands, limbs) - Most prominent in the hands, where the distal and middle where the distal and middle phalanges are shorter than the phalanges are shorter than the proximal phalanx proximal phalanx

• Polydactyly (ulnar side) Polydactyly (ulnar side)

• Thorax (short ribs, narrow) Thorax (short ribs, narrow)

• Other findings - Fusion of the hamate Other findings - Fusion of the hamate and capitate bones and capitate bones

supernumerary carpal bone centersupernumerary carpal bone center

Genetic studyGenetic study

• Gene testing forGene testing for

mutational mutational analysis analysis

of of EVCEVC and and EVC2EVC2

Growth chart for EVCGrowth chart for EVC

• Verbeek et al developed growth charts for Verbeek et al developed growth charts for males and females aged 0-20 yearsmales and females aged 0-20 years

The charts,reveal that 98% of patients with Ellis–van Creveld syndrome will exhibit lower height by age 10 years, compared with unaffected children.

TYPICAL IMAGESTYPICAL IMAGES

MEDICAL MANAGEMENTMEDICAL MANAGEMENT

• The management of Ellis–van The management of Ellis–van Creveld (EVC) syndrome is Creveld (EVC) syndrome is multidisciplinary.multidisciplinary.

• Care for respiratory distress, Care for respiratory distress, recurrent respiratory infections, and recurrent respiratory infections, and cardiac failure is supportivecardiac failure is supportive

SURGICAL MANAGEMENTSURGICAL MANAGEMENT

• Orthopedic procedures correct Orthopedic procedures correct polydactyly and other orthopedic polydactyly and other orthopedic malformations.malformations.

• Cardiac surgery may be needed to Cardiac surgery may be needed to correct cardiac anomaliescorrect cardiac anomalies

CONT..CONT..

• Thoracic expansion has been Thoracic expansion has been attempted in some patients.attempted in some patients.

• Dental care is usually necessaryDental care is usually necessary

ACYIVITYACYIVITY

• Activities may be limited secondary Activities may be limited secondary to cardiorespiratory status or skeletal to cardiorespiratory status or skeletal anomalies.anomalies.