Ellis-van-Creveld syndrome

Ellis–van Creveld syndrome, X-ray left hand with ossification abnormalities os hamatum, cone-shaped epiphyses

Ellis–van

Creveld syndrome, X-ray left hand with ossification abnormalities os hamatum, cone-shaped epiphyses

Newborn with short stature. CXR AP and lateral shows the ribs to be short and the thorax to be narrow.The diagnosis was chondroectodermal dysplasia.

Newborn with

short stature. CXR AP and lateral shows the ribs to be short and the thorax to be narrow.The diagnosis was chondroectodermal dysplasia.

pediatricimaging.org • CC-by-nc-sa 4.0

Newborn with short stature. AP radiograph of the hand shows polydactyly with fusion of the fifth and sixth metacarpals. The middle phalanges are short and broad and the distal phalanges are hypoplastic.The diagnosis was chondroectodermal dysplasia.

Newborn with

short stature. AP radiograph of the hand shows polydactyly with fusion of the fifth and sixth metacarpals. The middle phalanges are short and broad and the distal phalanges are hypoplastic.The diagnosis was chondroectodermal dysplasia.

pediatricimaging.org • CC-by-nc-sa 4.0

Chondroectodermal dysplasia • Ellis-van Creveld syndrome - Ganzer Fall bei Radiopaedia

Chondroectodermal

dysplasia • Ellis-van Creveld syndrome - Ganzer Fall bei Radiopaedia

Radswiki, T. Ellis-van Creveld syndrome. Case study, Radiopaedia.org. (accessed on 20 Oct 2022) https://doi.org/10.53347/rID-11382 • CC by-nc-sa 3.0 (modified)

Chondroectodermal dysplasia • Ellis-van Creveld syndrome - Ganzer Fall bei Radiopaedia

Chondroectodermal

dysplasia • Ellis-van Creveld syndrome - Ganzer Fall bei Radiopaedia

Asiri, Y. Ellis-van Creveld syndrome. Case study, Radiopaedia.org. (accessed on 20 Oct 2022) https://doi.org/10.53347/rID-64933 • CC by-nc-sa 3.0 (modified)

Radiopaedia • CC-by-nc-sa 3.0 • de

siehe auch

Rhizomelie
Polydaktylie
Herzfehler
Kryptorchismus
Mesomelie
Skelettdysplasie
epispadias
Kurzripp-Polydaktylie-Syndrome
left lip and / or palate

Chondroectodermal dysplasia, also known as the Ellis-van Creveld syndrome, is a rare type of skeletal dysplasia. It is classified as a type of mesomelic limb shortening .

Clinical spectrum

Clinical features include:

narrowing of thorax with short ribs
small and flared ilia
triradiate acetabula
c left lip and / or palate
epispadias
cryptorchidism
polydactyly: tends to be post axial
limb anomalies
- short limbs: especially forearm and lower leg
- bowing of humerus and femur
- hypoplasia of proximal tibial ossification center
- genu valgum
- short fibula
- carpal fusion
- short and broad middle phalanges
- hypoplastic distal phalanges
short stature
sparse, absent, or fine textured hair
dental anomalies
- peg teeth
- widely spaced teeth
- natal teeth
- delayed teeth
- missing teeth

Pathology

Genetics

It is caused by defects in one of two Ellis van Creveld syndrome genes (EVC1 and EVC2) that are next to each other on chromosome 4p16 . It is thought to carry an autosomal recessive inheritance with variable expression .