Answer for BIR CoW 13 Aug 2023
Antenatal diagnosis of Ellis Van Creweld Syndrome
Findings
Shortened limbs- micromelia with mesomelic predominance Narrow thorax, B/L hands postaxial polydactyly congenital heart disease – common av canal defect,absent crux – endocardial cushion defect Brain, face, kidneys , spine- normal Additional findings – scalp wall edema, ascites, increased skin thickness- NON IMMUNE HYDROPS FETALIS Postmortem xray –Shortened long bones Short ribs,B/l postaxial polydactyly ,Clubbed lower ends of long bones Synmetacarpalism -Side to side fusion of 5th & 6th metacarpals spur like downward projections at the medial and lateral aspects of acetabulum
Discussion
Ellis van creweld syndrome Aka Chondroectodermal dysplasia Inheritance-Autosomal recessive secondary to the mutation in gene EVC Incidence – Rare 1/1,50,000 population- with variable prognosis Basic defect –Generalized dysplasia of enchrondral ossification,delay in appearance of primary centre & premature appearance of secondary centre resulting in progressive distal shortening of extremities Tetrad of clinical manifestation – Chondrodystrophy, Polydactyly(100%) Ectodermal dysplasia, CHD – AV canal defect, ASD,VSD,common atrium Bone age is often less than the chronological age. Short stature, which is a common finding due to shortness of lower legs, is present at birth and becomes more prominent as the child grows.
Differential diagnosis:
ASPHYXIATING THORACIC DYSTROPHY(jeune syndrome)- Long narrow thorax, Renal anomalies (cystic dysplasia), polydactyly (14%) ,Spine – normal SHORT RIB POLYDACTYLY SYNDROME orofacial clefts,anophthalmia,iIntestinal and genital malformations,renal dysplasia, ambiguous genetalia DIASTROPHIC DWARFISM - Short broad long bones,Hitchhikers thumb ,B/l club feet, kyphoscoliosis,Marked micronagthia An antenatal demonstration of the spectrum of findings in the Ellis Van Creveld syndrome, with unreported type of polydactyly with synmetacarpalism, will definitely add to the scientific progress in the antenatal syndromic approach
REFERENCES
Kundaragi NG, Taori K, Kumawat R, Rathod J, Sawant AE. Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation. J Clin Imaging Sci. 2011;1:59. doi: 10.4103/2156-7514.91132. Epub 2011 Dec 24. PMID: 22267994; PMCID: PMC3261597. Tongsong T, Chanprapaph P. Prenatal sonographic diagnosis of ellis-van creveld syndrome. J Clin Ultrasound. 2000 Jan;28(1):38-41. doi: 10.1002/(sici)1097-0096(200001)28:1<38::aid-jcu6>3.0.co;2-z. PMID: 10602104.
Findings
Shortened limbs- micromelia with mesomelic predominance Narrow thorax, B/L hands postaxial polydactyly congenital heart disease – common av canal defect,absent crux – endocardial cushion defect Brain, face, kidneys , spine- normal Additional findings – scalp wall edema, ascites, increased skin thickness- NON IMMUNE HYDROPS FETALIS Postmortem xray –Shortened long bones Short ribs,B/l postaxial polydactyly ,Clubbed lower ends of long bones Synmetacarpalism -Side to side fusion of 5th & 6th metacarpals spur like downward projections at the medial and lateral aspects of acetabulum
Discussion
Ellis van creweld syndrome Aka Chondroectodermal dysplasia Inheritance-Autosomal recessive secondary to the mutation in gene EVC Incidence – Rare 1/1,50,000 population- with variable prognosis Basic defect –Generalized dysplasia of enchrondral ossification,delay in appearance of primary centre & premature appearance of secondary centre resulting in progressive distal shortening of extremities Tetrad of clinical manifestation – Chondrodystrophy, Polydactyly(100%) Ectodermal dysplasia, CHD – AV canal defect, ASD,VSD,common atrium Bone age is often less than the chronological age. Short stature, which is a common finding due to shortness of lower legs, is present at birth and becomes more prominent as the child grows.
Differential diagnosis:
ASPHYXIATING THORACIC DYSTROPHY(jeune syndrome)- Long narrow thorax, Renal anomalies (cystic dysplasia), polydactyly (14%) ,Spine – normal SHORT RIB POLYDACTYLY SYNDROME orofacial clefts,anophthalmia,iIntestinal and genital malformations,renal dysplasia, ambiguous genetalia DIASTROPHIC DWARFISM - Short broad long bones,Hitchhikers thumb ,B/l club feet, kyphoscoliosis,Marked micronagthia An antenatal demonstration of the spectrum of findings in the Ellis Van Creveld syndrome, with unreported type of polydactyly with synmetacarpalism, will definitely add to the scientific progress in the antenatal syndromic approach
REFERENCES
Kundaragi NG, Taori K, Kumawat R, Rathod J, Sawant AE. Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation. J Clin Imaging Sci. 2011;1:59. doi: 10.4103/2156-7514.91132. Epub 2011 Dec 24. PMID: 22267994; PMCID: PMC3261597. Tongsong T, Chanprapaph P. Prenatal sonographic diagnosis of ellis-van creveld syndrome. J Clin Ultrasound. 2000 Jan;28(1):38-41. doi: 10.1002/(sici)1097-0096(200001)28:1<38::aid-jcu6>3.0.co;2-z. PMID: 10602104.
Note:
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!