ELLIS – VAN CREVELD SYNDROME

(CHONDROECTODERMAL DYSPLASIA)

Autosomal recessive acromesomelic dwarf
Mesodermal dysplasia

Occurs in 1/60 000 births in the general population, but is most prevalent in the Amish population of Lancaster, Pennsylvania,USA (1/5000 births) (1,2).

The gene responsible for chondroectodermal dysplasia has been mapped to chromosome 4p16 (3). Five different mutations have been described including one mutation in the Older Order Amish (4). Prenatal diagnosis using DNA analysis on cells obtained at chorionic villus sampling and at fetoscopy has been reported (5).

ULTRASOUND

• Limbs.
• Proportional shortening of long bones (more severe in forearm and lower legs (radius and tibia > humerus and femur).
• Excessive shortening of fibula.
• Postaxial polydactyly (usually finger, with only 10% having polydactyly of the toes) (2).
• ± Syndactyly of hands and feet (hamate and capitate bones of the wrist are fused).
• Chest.
• Small thorax with decreased circumference.
• Increased cardiothoracic ratio.
• Horizontal ribs and elevated clavicles.
• ASD (often with a single atrium).
• Ectodermal defects.
• Dysplastic fingernails.
• Partial anodontia.
• Short upper lip attached by the frenula to the alveolar ridge.
• Epispadias (3).

DIFFERENTIAL DIAGNOSIS

• Asphyxiating Thoracic Dystrophy.
• Achondroplasia.
• Short rib/polydactyly syndromes.

	Jeune syndrome	Ellis–van Creveld syndrome	SRPS type III
Long bones	Moderately shortened	Shortened (rhizomelia)	Severely shortened
Ribs	Short, horizontal		Extremely short, horizontal
Thorax	Mild to severely narrow		Narrow, cylindrically shaped
Hands Feet	Polydactyly of hands and feet (inconstant feature)	All cases: postaxial polydactyly of hands Some cases: dysplasia of fingernails Minority of cases: polydactyly of feet	Postaxial polysyndactyly
Face		Partial harelip (associated with natal teeth)	Flat face
Visceral anomalies	Renal and liver failure starting in infancy	> 50%: heart defect - ASD (primum type) Epispadia Dandy–Walker malformation	Urogenital anomalies (ambiguous genitalia) Hydrops fetalis
X-ray	Short horizontal ribs Trident-shaped pelvis Square iliac wings Horizontal acetabular roofs with medial spurs Proximal femoral ossification centers present at birth (two thirds of the cases)	Wrist: fusion of hamate and capitate bones (characteristic) Trident shaped pelvis Erosion of lateral aspects of the proximal tibial metaphysis	Short horizontal ribs Horizontal trident lower iliac margins Flat acetabulae Severely shortened long bones Widened metaphyses Longitudinal metaphyseal spurs Vertebral abnormalities

Adapted from reference 7.

REFERENCES

1. Dugoff L, Thieme G, Hobbins JC. First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld) with ultrasound. Ultrasound Obstet Gynecol 2001;17:86-88.
2. Rimoin DL. The chondrodystrophies. Adv Hum Genet 1975;5:77-79.
3. Howard TD, Guttmacher AE, McKinnon W et.al. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Am J Hum Genet 1997;61:1405-1412.
4. Torrente I, Mangino M, De Luca A et.al. First trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers. Prenat Diagn 1998;18:504-506.
5. Mahoney MJ, Hobbins JC. Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy and ultrasound. N Eng J Med 1977;297;258-260.
6. Bowerman RA. Anomalies of the fetal skeleton: Sonographic findings. AJR 1995;164:973-979.
7. Den Hollander NS, Robben SGF, Hoogeboom AJM et.al. Early prenatal diagnosis and follow up of jeune syndrome. Ultrasound Obstet Gynecol 2001;18:378-383.