ANTENATAL SONOGRAPHIC FINDINGS IN SKELETAL DYSPLASIAS
 
Type of limb shortening

Rhizomelia

  • Thanatophoric dysplasia
  • Atelosteogenesis
  • Chondrodysplasia punctata (rhizomelic type)
  • Diastrophic dysplasia
  • Congenital short femur
  • Achondroplasia

Mesomelia

  • Mesomelic dysplasia
  • COVESDEM association
  • Acromelia
  • Ellis-Van Creveld syndrome

Micromelia

  • Achondrogenesis
  • Atelosteogenesis
  • Short-rib polydactyly syndrome (types I & III)
  • Diastrophic dysplasia
  • Fibrochondrogenesis
  • Osteogenesis imperfecta (type II)
  • Kniest dysplasia
  • Dyssegmental dysplasia
Altered thoracic dimensions

Long narrow thorax

  • Asphyxiating thoracic dysplasia
  • Ellis Van Creveld syndrome
  • Metatropic dysplasia
  • Fibrochondrogenesis
  • Atelosteogenesis
  • Campomelic dysplasia
  • Jarcho-Levin syndrome
  • Achondrogenesis
  • Hypophosphatasia
  • Dyssegmental dysplasia
  • Cleidocranial dysplasia

Short thorax

  • Osteogenesis imperfecta (type II)
  • Kniestís dysplasia
  • Pena-Shokeir syndrome
  • Hypoplastic thorax
  • Short-rib polydactyly syndrome (types I & II)
  • Thanatophoric dysplasia
  • Cerebro-costo-mandibular syndrome
  • Cleidocranial dysostosis syndrome
  • Homozygous achondroplasia
  • Melnick-Needles syndrome (osteodysplasty)
  • Fibrochondrogenesis
  • Otopalatodigital syndrome (type II)
Hand and foot abnormalities

Postaxial polydactyly

  • Chondroectodermal dysplasia
  • Short rib-polydactyly syndrome (type I, type III)
  • Asphyxiating thoracic dysplasia
  • Otopalatodigital syndrome
  • Mesomelic dysplasia Werner type (associated with absence of thumbs)

Preaxial polydactyly

  • Chondroectodermal dysplasia
  • Short-rib polydactyly syndrome type II
  • Carpenter syndrome

Syndactyly

  • Poland syndrome
  • Carpenter syndrome
  • Apert syndrome
  • Otopalatodigital syndrome (type II)
  • Mesomelic dysplasia Werner type
  • TAR syndrome
  • Jarcho-Levin syndrome
  • Roberts syndrome
Brachydactyly
  • Mesomelic dysplasia Robinow type
  • Otopalatodigital syndrome
Hitch-hiker thumb
  • Diastrophic dysplasia

Club feet deformity

  • Diastrophic dysplasia
  • Osteogenesis imperfecta
  • Kniestís dysplasia
  • Spondyloepiphyseal dysplasia congenita
Skull and face deformities

Large head

  • Achondroplasia
  • Achondrogenesis
  • Thanathophoric dysplasia
  • Osteogenesis imperfecta
  • Cleidocranial dysplasia
  • Hypophosphatasia
  • Campomelic syndrome
  • Short rib-polydactyly syndrome (type III)
  • Robinow mesomelic dysplasia
  • Otopalatodigital syndrome
Clover-leaf skull
  • Thanatophoric dysplasia (type II)
  • Campomelic syndrome
Other craniosynostosis
  • Apertís syndrome
  • Carpenter syndrome
  • Hypophosphatasia


Congenital cataracts

  • Chondrodysplasia punctata

Cleft palate

  • Asphyxiating thoracic dysplasia
  • Kniestís dysplasia
  • Diastrophic dysplasia
  • Spondyloepiphyseal syndrome
  • Campomelic syndrome
  • Jarcho-Levin syndrome
  • Chondroectodermal dysplasia
  • Short-rib polydactyly syndrome (type II)
  • Metatropic dysplasia
  • Dyssegmental dysplasia
  • Otopalatodigital syndrome type II
  • Roberts syndrome

Hypertelorism

  • Otopalatodigital syndrome
  • Arthrogryposis multiplex congenita
  • Larsenís syndrome
  • Roberts syndrome
  • Cleidocranial dysplasia
  • Achondroplasia
  • Campomelic dysplasia
  • Coffin syndrome
  • Klippel-Feil syndrome
  • Apert syndrome
  • Sprengelís deformity
  • Mesomelic dysplasia
  • Holt-Oram syndrome

Micrognathia

  • Campomelic dysplasia
  • Diastrophic dysplasia
  • Otopalatodigital syndrome
  • Achondrogenesis
  • Mesomelic dysplasia
  • Arthrogryposis multiplex congenita
  • Nager acrofacial dysostosis
  • Oromandibular limb hypogenesis
  • Atelosteogenesis

Copyright© 2000 by Pilu, Nicolaides, Ximenes & Jeanty.