Level II Ultrasound:The Fetal Skeletal System

Skeleton
Source:TheFetus.net
Terms:

Rhizomelia: Small proximal extremities ( femur, humerus).
Mezomelia: Small intermediate segments of long bones
( ulna, radius etc.).
Acromelia: Shortening of the distal segment (hands or feet).
Micromelia: Shortening of all segment of the extremities.
Campomelia: Bowing of the long bones.
Relative Frequencies of Selected Skeletal Dysplasias as Reported in the Literature.
REFERENCES:
1.Kozlowski K, Beighton P. Gamut Index of Skeletal Dysplasias : An Aid to Radiodiagnosis. Berlin: Springer-Verlag, 1984
2. Camera G, Mastoiacovo P. Birth prevalence of skeletal dysplasias in the Italian multicentric monitoring system for birth defects. In Papadatos CJ, Bartsocas CS, eds. Skeletal dysplasia. New York: Alan R Liss;1982:441-449.
3. Connor JM, Connor RAC, Sweet EM et al. Lethal neonatal chondrodysplasias in West Scotland, 1970-1983 with a description of a thanatophoric, dysplasia-like autosomal recessive disorder. Am J Med Genet 1985;22:243

Measurement of the Femur Length
- The femur length measured from blunt end to blunt end parallel to the shaft.
- A normal femur length consistent with expected age without bowing or angulation is considered adequate for screening of short limb dysplasias in a patient with no history of risk factors[1].
- A femur length to foot length (on plantar view) ratio > .85 supports familial variation as the cause of a femur length less than expected.[1]
Specific Anomalies

Aase Syndrome
- Features/OMIM
- Synopsis
- Literature Search
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Achondrogenesis
- TYPE 1 Features/OMIM
- TYPE 2 Features/OMIM
- Sonograms and Information
  Source:TheFetus.net
- Literature Search
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Achondroplasia
Femoral length growth curves have been established to distinguish homozygous (lethal) and heterozygous (nonlethal) achondroplasia . ^[1]
- Features/OMIM
- Synopsis
- Patient Information
- Radiology
- Orthopedic
- Sonograms
- Literature Search
1.Patel MD, Filly RA: Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester. Radiology 196(2):541-545, 1995

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Acromesomelic Dysplasia
- Features/OMIM
- Patient Information
- Sonograms
- Literature Search
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Acromicric Dysplasia
- Features/OMIM
- Patient Information
- Literature Search
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Adams-Oliver Syndrome
- Features/OMIM
- Image and Patient Information
- Literature Search
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Apert Syndrome
- Features/OMIM
- Synopsis
- Sonogram
- Sonograms
- Literature Search
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Arthrogryposis
- General (Features/OMIM)
- Type I-X-linked (Features/OMIM)
- Ectodermal dysplasia (Features/OMIM)
- Lower motor neuron disease (Features/OMIM)
- Microcirculation abnormalities (Features/OMIM)
- Ophthalmoplegia-Features/OMIM
- Image and Patient Information
- Images and Information
- Information and Sonogram
- Literature Search
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Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
- Features/OMIM
- Synopsis
- Sonogram
- Information and Images
- Literature Search
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Atelesteogenesis

TYPE I (Features/OMIM)

TYPE II (Features/OMIM)

TYPE III(Features/OMIM)

UK Human Genome Mapping Project Resource Centre
Literature Search

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Baller-Gerold
- Features/OMIM
- Literature Search
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Campomelic Dysplasia
- Features/OMIM
- Information and Sonograms
- Literature Search
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Carpenter Syndrome
- Features/OMIM
- Literature Search
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Cleidocranial dystosis
- Features/OMIM
- Synopsis
- Literature Search
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Caudal Regression
- Features/OMIM
- Prenatal diagnosis of Caudal Regression Syndrome : a case report
- Literature Search
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Cerebro-costo-mandibular Syndrome
- Features/OMIM
- Literature Search
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Chondroectodermal Dysplasia(Ellis-Van Creveld Syndrome)

Chondrodysplasia Punctata
- X-Linked recessive (Features/OMIM)
- Humero-metacarpal Type (Features/OMIM)
- Rhizomelic-autosomal recessive(Features/OMIM)
- Tibia-metacarpal type(Features/OMIM)
- Literature Search
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Craniosynostosis
- Adelaide Type(Features/OMIM)
- Brachydactyly(Features/OMIM)
- Synopsis
- Information and Images
- Craniofacial Surgery
- Literature Search
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Dappled Diaphyseal Dysplasia
- Features/OMIM
- Literature Search
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Cornelia De Lange Syndrome
- Synopsis
- Information and Images
- Images and Patient Information
- Literature Search
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Diastrophic Dysplasia
- Features/OMIM
- Radiology and Orthopedic
- Information and Sonograms
- Literature Search
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Duane Anomaly
- Features/OMIM
- Radial Defects(Features/OMIM)
- Literature Search
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Dyssegmental Dysplasia
- Features/OMIM
- Sonograms
- Literature Search
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Ellis-Van Creveld Syndrome
- Features/OMIM
- Synopsis
- Sonograms
- Image and Patient Information
- Literature Search
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Fanconia Pancytopenia
- Features/OMIM
- Literature Search
Femoral Dysplasia/Hypoplasia

Femoral Duplication(Features/OMIM)

Femoral hypoplasia-unusual facies(Features/OMIM)

Femur-Fibula-Ulna Complex(Features/OMIM)
- Femur-Fibula-Ulna Syndrome(Features/OMIM)
- Focal Femoral Deficiency
  - Orthopaedic
  - Orthopaedic
- Literature Search
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Fibrochondrogenesis
- Features/OMIM
- Literature Search
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Fibular Dysplasia/Hypoplasia

Fibula Dimelia-Polydactyly(Features/OMIM)

Fibular Aplasia-Oligodactyly-Camptomelia(Features/OMIM)

Fibular Aplasia/Hypoplasia(Features/OMIM)

Du Pan Brachydactyly-Fibular Aplasia(Features/OMIM)

UK Human Genome Mapping Project Resource Centre
Literature Search

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Goldenhar Syndrome
- Features/OMIM
- Synopsis
- Image and Patient Information
- Literature Search
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Holt-Oram Syndrome
- Features/OMIM
- Sonograms
- Literature Search
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Hypochondroplasia
- Synopsis
- Information
- Patient Information
- Literature Search
Hypophosphatasia
- Features/OMIM
- Literature Search
IVIC syndrome
- Features/OMIM
- Literature Search
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Jarcho-Levin
- Features/OMIM
- Literature Search
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Juberg-Hayward syndrome (Orofaciodigital (OFD) syndrome VI)
- Features/OMIM
- Information
- Literature Search
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Klippel-Feil Syndrome
- Features/OMIM
- Orthopaedic
- Literature Search
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Kniest Syndrome
- Features/OMIM
- Severe Neonatal Form(Features/OMIM)
- Patient Information
- Literature Search
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Langer Type Mesomelic Dysplasia
- Features/OMIM
- Features/OMIM
- Literature Search
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Levy-Hollister Syndrome
- Features/OMIM
- Literature Search
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Melnick-Needles Osteodysplasty
- Features/OMIM
- Literature Search
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Metatropic Dysplasia
- Features/OMIM
- Synopsis
- Literature Search
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Miller Syndrome (Postaxial Acrofacial Dysostosis)
- Features/OMIM
- Literature Search
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Moebius Sequence
- Synopsis
- Image and Patient Information
- Literature Search
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Nager Syndrome
- Image and Patient Information
- Patient Information
- Literature Search
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Osteogenesis Imperfecta
- TYPE I (Features/OMIM)
- TYPE II(Features/OMIM)
- TYPE III (Features/OMIM)
- TYPE IV (Features/OMIM)
- Orthopedic
- Information and Sonograms
- Literature Search
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Oto-palato-digital Syndrome Type II
- Features/OMIM
- Literature Search
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Pallister-Hall Syndrome
- Features/OMIM
- Information
- Patient Information
- Literature Search
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Pena-Shokeir Phenotype
- Features/OMIM
- Literature Search
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Pfeiffer Syndrome
- Features/OMIM
- Synopsis
- Literature Search
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Pierre Robin Syndrome
- Synopsis
- Image and Patient Information
- Literature Search
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Pillay Syndrome
- Features/OMIM
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Poland Syndrome
- Features/OMIM
- Literature Search
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Reinhardt-Pfeiffer Mesomelia
- Features/OMIM
- Literature Search
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Roberts Syndrome
- Features/OMIM
- Literature Search
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Rothmund-Thomson Syndrome
- Features/OMIM
- Information
- Literature Search
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Spina Bifida
- Features/OMIM
- Synopsis
- Pathology Slide SOURCE: University of Connecticut
- SonogramSOURCE: CPDX, Indiana
- Sonograms and Information
  Source:TheFetus.net
- Literature Search
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Seckel Syndrome
- Features/OMIM
- Information and Sonograms
  Source:OBGYN.net
- Literature Search
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Schnizel-Giedion
- Features/OMIM
- Literature Search
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Short-Rib-Polydactyl Syndrome
- Synopsis
- Literature Search
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Spondyloepiphyseal Dysplasia
- Synopsis
- Literature Search
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TAR Syndrome
- Features/OMIM
- Synopsis
- Literature Search
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Thanatophoric Dysplasia

Type I(Features/OMIM)

Type II - Cloverleaf Skull(Features/OMIM)

UK Human Genome Mapping Project Resource Centre
Radiology

University Hospital Antwerp, Edegem, Belgium.
Sonograms

TheFetus.net
Literature Search
Ulnar-Mammary (Pallister) Syndrome
- Features/OMIM
- Literature Search
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VATER Association
- Features/OMIM
- Literature Search
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Weyers Oligodactyly
- Features/OMIM
- Literature Search
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This page was last modified on: 11/30/2002

Measurement of the Femur Length