Appendix II - Sonographic findings in Skeletal Dysplasias

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Handbook of Fetal Abnormalities

Algorithm140

Appendix

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) Kniest’s 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 Aper 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 Kniest’s 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 craniostenosis}	Apert’s syndrome Carpenter syndrome Hypophosphatasia
*Congenital cataracts*	Chondrodysplasia punctata
Cleft palate	Asphyxiating thoracic dysplasia Kniest’s 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 Larsen’s syndrome Roberts syndrome Cleidocranial dysplasia Achondroplasia Campomelic dysplasia Coffin syndrome Klippel-Feil syndrome Aper syndrome Sprengel’s 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

Congenital cataracts

Cleft palate