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| Year : 2006 | Volume
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| Issue : 3 | Page : 325-327 |
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| Ellis-Van creveld's syndrome (a case rreport) |
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OP Sharma, R Saraf, B Gupta
From the Institute of Medical Sciences, Banaras Hindu University, Varanasi-2211005, India
Click here for correspondence address and email
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 Abstract | | |
A 13 years old male patient had stunted growth, bilateral polydactyly, fusion of capitate and hamate on right side, incomplete duplication of 1st metacarpal at its proximal end, poorly ossified epiphyses of lower end of radius & ulna, valgus deformity of right knee, conical shape of tibial epiphyses, nonossified fibular epiphyses & a small bony exostoses from medial end of right tibia, abnormal teeth and nail of hand. Also there was evidence of left to right shunt in the heart. Oral frenulae, pseudocleft of upper lip were also noticed. Keywords: Ellis-Van Creveld syndrome, chondroectodermal dysplasm, polydactyly
How to cite this article:
Sharma O P, Saraf R, Gupta B. Ellis-Van creveld's syndrome (a case rreport). Indian J Radiol Imaging 2006;16:325-7 |
| Introduction | |  |
Ellis-van Creveld syndrome More Details or chondroectodermal dysplasia is a form of short-limbed dwarfism. The name chondroectodermal is used because it affects the skeleton (chondro) and the skin (ectoderm) both. The syndrome is first described by Ellis and Van creveld in 1940 and this disease was found chiefly among the Amish group of population chiefly in Pennsylania, Ohio and Indiana. The disorder is characterized by anomalies of the hands, ectodermal dysplasia involving mainly the nails and teeth. Reported incidence is one in 1500000 live births. Incidence in India is very rare. Only single case reports have been found (Popli & Popli 2002). We are reporting a case of chondroectodermal dysplasia with review of its literature.
| Case Note | | |
13 years old male resident of Deoria, a city in Purvanchal of Uttar Pradesh presented to us with breathlessness on excertion since childhood. He showed stunted growth and polydactyly in both hands. There was hypoplastic incisor and canine teeths, dysplastic nails and hair appeared sparse. Cardiovascular system revealed the features of left to right shunt at atrial level.
Complete skeletal survey was done which revealed - bilateral polydactyly. On X-ray both hands with wrist joint in A.P. view revealed 6 fingers, incomplete duplication of 1st metacarpal at proximal end, on right side fusion of capitate & hammate, phalanges were relatively small but feet were normal. Broadening of bases of middle phalanges on either side was also noted. Metacarpals were showing dumbbell shape. Poorly ossified epiphysis of lower end of radius and ulna [Figure - 1]. Right knee [Figure - 2] revealed valgus deformity and conical shape of tibial epiphyses, non-ossified fibular ephiphyses and bony exostosis from medial end of right tibia (arrow). Dorsolumbosacral spine revealed partial sacrococcygeal agenesis. Skull lateral view [Figure - 3] showed relatively small face with abnormal dentition. Pelvis AP views revealed trident acetabulum and narrow sacrosciatic notch [Figure - 4].
Based on these skeletal and dental nail abnormalities the diagnosis of Ellis Van Creveld disease was entertained.
| Discussion | | |
Combination of bony & cutaneous abnormalities is inherited as an autosomal recessive gene, which means that a child with Ellis-Van Creveld Syndrome (E.V.C.) is born to average sized parents who both carry the genes for E.V.C. The parents hare 1 in 4 or 25% chance with each pregnancy of having children with E.V.C. Clinical features include post axial polydactyly of hands and occasionally involve feet also. Polydactyly may be just extra soft tissue not adherent to skeleton and devoid of bone, cartilage, joint or tendon or the digit may show duplication with components like bifid metacarpals or there may be a complete digit formation with its own metacarpal & complete soft tissue. There is also short limbed disproportionate dwarfism with the extremities shortened out of proportion to the trunk. The bone dysplasia is characterized by acro-mesomelia, relative shortening of distal & middle segment as opposed to proximal segments. There may be valgus deformity of the knee. The skin manifestations include problems with nail & teeth. The fingers and toe nails are smaller and unusual shaped. Oral problems include frenulae or areas of fusion between the inner upper lip and gum, partial or pseudoclefts of upper lip. Teeth abnormalities include natal teeth, missing teeth or peg shaped teeth. Congenital heart defects occur in about 50% of case. The most common is atrial septal defect and others are VSD and hypoplasia of aorta. Single atrium or common atrium is a rare variety of interatrial communication, characterized by absent or virtual absence of atrial septum, vestigial remnants of which may occasionally be present. Left axis deviation of the QRS complex on ECG is present (Sanjeev etal 2002).
Infant mortality rate are higher primarily due to cardiorespiratory failure, if they survive, morbidity is significant. The E.V.C. gene was discovered in the year 2000 and is located on chromosome no. 4. Changes in the E.V.C. gene are also responsible for a related syndrome, WEYER acrofacial dysostosis and an individual with 2 changed E.V.C. genes has Ellis-Van-Creveld Syndrome. Occasionally E.V.C. has to be differentiated from asphyxiating thoracic dyspasia or Jeune syndrome & short limb polydactyly syndrome type III because of overlapping features. Other features include sparse / absent hair with fine texture. Nails are absent or deformed, joint movement may be limited, chest may show short ribs. Undescended testes may be located on ultrasonography. Asphyxiating thoracic dysplasia patients have a small chest that appears long and narrow, with death occurring in neonatal period due to respiratory distress. Polydactyly are symptomless. Nails are almost normal. Older individuals often develop renal dysfunction leading to renal failure.
Short-rib polydactyly type III (Verma-Naumoff type) is seen in infants with short-limbed dwarfism & a narrow chest with under developed lungs. They also have problems related with heart, kidney & intestines. These infants die at birth because of respritary distresse.
| Summary | | |
A 13 years old male patient had typical bony abnormalities including bilateral polydactyly, incomplete duplication of 1st metacarpal & fusion of capitate & hamate on right side, small bony exostoses from medial border of tibia, oral problems including frenulae or areas of fusion between inner upper & lip and gum, partial or pseudocleft of upper lip, teeth abnormalities and L-R shunt.[9]
| References | | |
| 1. | Popli MB & Popli V: Ellis Van Creveld Syndrome Ind Jour Radiol 12,549-550, 2002.  |
| 2. | Sanjeet CG, ROY TNS & Venugopal K. Common atrium in a child with Ellis Van Creveld Syndrome Heart 88, 142, 2002. |
| 3. | Levin L. S.: Ellis-Van Creveld's Syndrome. |
| 4. | Mc Kusick's Heritable disorders of connective tissue (ed P. Beeghton) Mosby - Year book. Inc. PP 590-595, 1993. |
| 5. | Brueton, LA et al : Ellis Van Creveld Syndrome, Jeune Syndrome & renal hepatic dysplasia. Separate entities or disease spectrum & J. Med Genet 27, 252-255, 1990. |
| 6. | The encyclopaedia of medical imaging (Ed Petterson H) Nicer Institute VII, Paediatric Imaging by Helen Carty Page 131, 2001. |
| 7. | Ellis Van creveld syndrome : Atlas of Skeletal dysplasias , Ruth Wyne Davis, Christine Mitall, A Graham Alley, Churchill Livingstone Page 301, 1985. |
| 8. | Ellis R.WB Andrew JD: Chondroectodermal dysplasia Jour Bone Joint Surgery 44B: 626, 1962. |
| 9. | Diagnostic Radiology (Ed II) Vol. III Edited by RG Grainger & DJ Allis on Churchill Livingstone. EVC Page 1651-1652, 1992. |
Correspondence Address:
O P Sharma
7FF, Old Medical Enclave Banaras Hindu University Varanasi-221005
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0971-3026.29007
Figures
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4] |
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