ELLIS – VAN CREVELD SYNDROME
-
Upload
mandar-haval -
Category
Education
-
view
33 -
download
1
Transcript of ELLIS – VAN CREVELD SYNDROME
![Page 1: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/1.jpg)
ELLIS – VAN CREVELD ELLIS – VAN CREVELD SYNDROMESYNDROME
DR MANDAR DR MANDAR
SPAN HOSPITALSPAN HOSPITAL
![Page 2: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/2.jpg)
•VAIBHAVI S HIREMATHVAIBHAVI S HIREMATH
•7 ys / FEMALE7 ys / FEMALE
•1 st issue of non 1 st issue of non consangunous marriageconsangunous marriage
![Page 3: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/3.jpg)
ComplainsComplains
•Fever - 15 daysFever - 15 days
•Cough - 8 daysCough - 8 days
•BREATHLESSNESS – 2 daysBREATHLESSNESS – 2 days
![Page 4: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/4.jpg)
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
![Page 5: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/5.jpg)
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
![Page 6: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/6.jpg)
•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
![Page 7: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/7.jpg)
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
![Page 8: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/8.jpg)
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
![Page 9: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/9.jpg)
•Mid parentral ht – less Mid parentral ht – less thanthan
2 SD2 SD
![Page 10: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/10.jpg)
![Page 11: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/11.jpg)
EXAMINATIONEXAMINATION
•CONCIOUS, COPERATIVECONCIOUS, COPERATIVE
•VITALSVITALS
RR- 54/minRR- 54/min
HR- 108/minHR- 108/min
![Page 12: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/12.jpg)
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
![Page 13: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/13.jpg)
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
![Page 14: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/14.jpg)
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
![Page 15: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/15.jpg)
Cont..Cont..
•Early systolic murmur is Early systolic murmur is heard , grade 3 , radiating heard , grade 3 , radiating to the precordiam to the precordiam
![Page 16: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/16.jpg)
PER ABDOMENPER ABDOMEN
•Soft , non tender, no Soft , non tender, no organomegaly, BS+organomegaly, BS+
•CNS- WNLCNS- WNL
![Page 17: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/17.jpg)
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
![Page 18: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/18.jpg)
WRIST XRAY FOR BONE AGEWRIST XRAY FOR BONE AGE
• BA= CABA= CA
![Page 19: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/19.jpg)
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
![Page 20: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/20.jpg)
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)
![Page 21: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/21.jpg)
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
![Page 22: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/22.jpg)
D/D OF US> LSD/D OF US> LS
• AcondroplasiaAcondroplasia
• HypocondroplasiaHypocondroplasia
• Osteogenesis imperfectaOsteogenesis imperfecta
• RicketsRickets
• Ellis van creveld Ellis van creveld syndrome syndrome
![Page 23: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/23.jpg)
OTHER FEATURES OTHER FEATURES
• POLYDACTYLYPOLYDACTYLY
• CONGENITAL HEART DISEASECONGENITAL HEART DISEASE
• MALFORMED TOOTHMALFORMED TOOTH
• ABNORMAL SHAPE OF CHESTABNORMAL SHAPE OF CHEST
• SHORT LIMBSHORT LIMB
![Page 24: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/24.jpg)
FINAL DIAGNOSISFINAL DIAGNOSIS
ELLIS VAN CREVELDELLIS VAN CREVELD
![Page 25: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/25.jpg)
ADVICEADVICE
• GENETIC STUDYGENETIC STUDY
![Page 26: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/26.jpg)
Ellis-vanEllis-van CreveldCreveld SyndromeSyndrome
((chondroectrodermalchondroectrodermal dysplasiadysplasia))
![Page 27: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/27.jpg)
CLINICAL FEATURECLINICAL FEATURE
• Short statureShort stature
•Short forearm and lower Short forearm and lower legleg
•Narrow chestNarrow chest
![Page 28: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/28.jpg)
CONT…CONT…
• PolydactylyPolydactyly
•Unusually formed teethUnusually formed teeth
•Congenital heart disease(ASD)Congenital heart disease(ASD)
![Page 29: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/29.jpg)
•Autosomal recessive Autosomal recessive pattern inheritancepattern inheritance
![Page 30: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/30.jpg)
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
![Page 31: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/31.jpg)
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
![Page 32: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/32.jpg)
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)
![Page 33: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/33.jpg)
• 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
![Page 34: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/34.jpg)
![Page 35: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/35.jpg)
Genetic studyGenetic study
• Gene testing forGene testing for
mutational mutational analysis analysis
of of EVCEVC and and EVC2EVC2
![Page 36: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/36.jpg)
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.
![Page 37: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/37.jpg)
TYPICAL IMAGESTYPICAL IMAGES
![Page 38: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/38.jpg)
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
![Page 39: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/39.jpg)
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
![Page 40: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/40.jpg)
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
![Page 41: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/41.jpg)
ACYIVITYACYIVITY
• Activities may be limited secondary Activities may be limited secondary to cardiorespiratory status or skeletal to cardiorespiratory status or skeletal anomalies.anomalies.
![Page 42: ELLIS – VAN CREVELD SYNDROME](https://reader035.fdocuments.net/reader035/viewer/2022062320/55c15244bb61ebfa1d8b46b6/html5/thumbnails/42.jpg)