- The patient is a 7-year-old female presenting with fever, cough, and breathlessness. Examination found features consistent with Ellis-van Creveld syndrome including short stature, short limbs, narrow chest, polydactyly, abnormal teeth, and congenital heart disease. Genetic testing confirmed mutations in EVC and EVC2 genes associated with this syndrome. Management is multidisciplinary and includes treatment for respiratory issues, cardiac support, orthopedic procedures, and dental care.

1. ELLIS – VAN CREVELDELLIS – VAN CREVELD
SYNDROMESYNDROME
DR MANDARDR MANDAR
SPAN HOSPITALSPAN HOSPITAL

2. • VAIBHAVI S HIREMATHVAIBHAVI S HIREMATH
• 7 ys / FEMALE7 ys / FEMALE
• 1 st issue of non1 st issue of non
consangunous marriageconsangunous marriage

3. ComplainsComplains
• Fever - 15 daysFever - 15 days
• Cough - 8 daysCough - 8 days
• BREATHLESSNESS – 2 daysBREATHLESSNESS – 2 days

4. PAST HISTORYPAST HISTORY
• Repeated episodes of LRTIRepeated episodes of LRTI
• No H/O any contact with TbNo H/O any contact with Tb
patientspatients

5. BIRTH H/OBIRTH H/O
• Full term normal deliveryFull term normal delivery
• Birth wt was 2.8 kgBirth wt was 2.8 kg
• No h/o any NICU admissionNo h/o any NICU admission

6. • NO DELAY IN MENTAL ANDNO DELAY IN MENTAL AND
MOTOR MILE STONEMOTOR MILE STONE
DIET h/oDIET h/o
• ADEQUATEADEQUATE
Developmental H/ODevelopmental H/O

7. AntropometryAntropometry
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

8. 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

9. • Mid parentral ht – less thanMid parentral ht – less than
2 SD2 SD

11. EXAMINATIONEXAMINATION
• CONCIOUS, COPERATIVECONCIOUS, COPERATIVE
• VITALSVITALS
RR- 54/minRR- 54/min
HR- 108/minHR- 108/min

12. Head to Toe examinationHead to Toe examination
• Malformation of toothMalformation of tooth
• POLYDACTYLYPOLYDACTYLY
• CHEST DEFORMITIESCHEST DEFORMITIES
• NO S/O SKIN CHANGES &NO S/O SKIN CHANGES &
NUTRITION DEFNUTRITION DEF

13. SYSTEMIC EXAMINATIONSYSTEMIC EXAMINATION
• RESPIRATORY SYSTEMRESPIRATORY SYSTEM
s/o respiratory distress +s/o respiratory distress +
B/L crepts + in lower lobeB/L crepts + in lower lobe

14. Cardio vascular examinationCardio vascular examination
• MitralMitral area- sarea- s11 ss22 –normal–normal
• Pulmonary area-split sPulmonary area-split s22
split is presentsplit is present
both in insiration andboth in insiration and
expirationexpiration

15. Cont..Cont..
• Early systolic murmur isEarly systolic murmur is
heard , grade 3 , radiating toheard , grade 3 , radiating to
the precordiamthe precordiam

16. PER ABDOMENPER ABDOMEN
• Soft , non tender, noSoft , non tender, no
organomegaly, BS+organomegaly, BS+
• CNS- WNLCNS- WNL

17. 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 patchB/L lower lobe patch

18. WRIST XRAY FOR BONE AGEWRIST XRAY FOR BONE AGE
• BA= CABA= CA

19. OTHER INVESTIGATIONOTHER INVESTIGATION
• Sr calciam, ALP, Phosp- wnlSr calciam, ALP, Phosp- wnl
• Other investigation-Other investigation-
sr electrolyte, blood cul ,sgptsr electrolyte, blood cul ,sgpt

20. Echo reportEcho report
• Large ASD, ejection fractionLarge ASD, ejection fraction
normal, require surgicalnormal, require surgical
correctioncorrection
(as adviced by cardiologist)(as adviced by cardiologist)

21. 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 stature
Bone Age
Delayed Advanced
US: LS Ratio US: LS Ratio Rare:
1JRA
2Hemophilia
3Androgen/ Estrogen
Exposure
Proportional Disproportional
US> LS US<LS1IUGR
2Dysmorphic
syndrome
3Chromosomal syndrome
4Turner’s syndrome
Proportionate Disproportionate
1Constitutional Delay
2GH def
3Psychosocial Short stature.
4Chronic Systemic dis.
5Malnutrition
Hypothyroidism.
Rickets
Normal
Height< 3rd
centile of reference range

22. D/D OF US> LSD/D OF US> LS
• AcondroplasiaAcondroplasia
• HypocondroplasiaHypocondroplasia
• Osteogenesis imperfectaOsteogenesis imperfecta
• RicketsRickets
• Ellis van creveld syndromeEllis van creveld syndrome

23. OTHER FEATURESOTHER FEATURES
• POLYDACTYLYPOLYDACTYLY
• CONGENITAL HEARTCONGENITAL HEART
DISEASEDISEASE
• MALFORMED TOOTHMALFORMED TOOTH
• ABNORMAL SHAPE OFABNORMAL SHAPE OF
CHESTCHEST
• SHORT LIMBSHORT LIMB

24. FINAL DIAGNOSISFINAL DIAGNOSIS
ELLIS VAN CREVELDELLIS VAN CREVELD

25. ADVICEADVICE
• GENETIC STUDYGENETIC STUDY

26. Ellis-vanEllis-van CreveldCreveld
SyndromeSyndrome
((chondroectrodermalchondroectrodermal dysplasiadysplasia))

27. CLINICAL FEATURECLINICAL FEATURE
• Short statureShort stature
• Short forearm and lower legShort forearm and lower leg
• Narrow chestNarrow chest

28. CONT…CONT…
• PolydactylyPolydactyly
• Unusually formed teethUnusually formed teeth
• Congenital heartCongenital heart

29. • Autosomal recessive patternAutosomal recessive pattern
inheritanceinheritance

30. PrevalancePrevalance
• 1 in 60,000 to 2,00,0001 in 60,000 to 2,00,000
• Common in – AmishCommon in – Amish
population, Pennsylvania,population, Pennsylvania,
Native population of australiaNative population of australia

31. GeneticsGenetics
• Mutation in EVC and EVC2Mutation in EVC and EVC2
genesgenes
• ECV gene maps onECV gene maps on
cromosome 4 short armcromosome 4 short arm

32. Radiological diagnosisRadiological diagnosis
• Acromesomelia (relative shortening of theAcromesomelia (relative shortening of the
distal and middle segment of the limbs) -distal and middle segment of the limbs) -
Most prominent in the hands, where theMost prominent in the hands, where the
distal and middle phalanges are shorterdistal and middle phalanges are shorter
than the proximal phalanxthan the proximal phalanx
• Polydactyly (ulnar side)Polydactyly (ulnar side)

33. • Thorax (short ribs, narrow)Thorax (short ribs, narrow)
• Other findings - Fusion of the hamate andOther findings - Fusion of the hamate and
capitate bonescapitate bones
supernumerary carpal bone centersupernumerary carpal bone center

35. Genetic studyGenetic study
• Gene testing forGene testing for
mutational analysismutational analysis
ofof EVCEVC andand EVC2EVC2

36. Growth chart for EVCGrowth chart for EVC
• Verbeek et al developed growth charts forVerbeek 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.

37. TYPICAL IMAGESTYPICAL IMAGES

38. MEDICAL MANAGEMENTMEDICAL MANAGEMENT
• The management of Ellis–van CreveldThe management of Ellis–van Creveld
(EVC) syndrome is multidisciplinary.(EVC) syndrome is multidisciplinary.
• Care for respiratory distress, recurrentCare for respiratory distress, recurrent
respiratory infections, and cardiac failurerespiratory infections, and cardiac failure
is supportiveis supportive

39. SURGICAL MANAGEMENTSURGICAL MANAGEMENT
• Orthopedic procedures correct polydactylyOrthopedic procedures correct polydactyly
and other orthopedic malformations.and other orthopedic malformations.
• Cardiac surgery may be needed to correctCardiac surgery may be needed to correct
cardiac anomaliescardiac anomalies

40. CONT..CONT..
• Thoracic expansion has been attempted inThoracic expansion has been attempted in
some patients.some patients.
• Dental care is usually necessaryDental care is usually necessary

41. ACYIVITYACYIVITY
• Activities may be limited secondary toActivities may be limited secondary to
cardiorespiratory status or skeletalcardiorespiratory status or skeletal
anomalies.anomalies.