Normal and pathological development of the human skeleton

Normal and pathological development of the human skeleton before 21 weeks GA 2015 IPPA Update Course Australia, 22 nd-27 th November 2015 Inger Kjær Professor, Dr Odont et Dr Med Faculty of Health Sciences Institute of Odontology University of Copenhagen, Denmark

Spranger JW et al. 1982

Normal development • extremities • body axis, vertebral column • cranium Questions to ask: -Where does ossification begin? -Sequence: In what order do the bones of the upper extremities ossify? -Morphology: What is the initial appearance of the osseous primordia? -Developmental courses: How is the osseous morphology changed along the way?

GA 8 ½ W Normal development CRL 31 mm, GA 9 W

CRL 30 mm, GA 9 W Normal development CRL 40 mm, GA 10 W

Normal development CRL 55 mm, GA 11½ W CRL 87 mm, GA 14 W

Normal development sequence, morphology and developmental courses The hand GA 16 weeks

Normal development

CRL 31 mm, GA 9 W Normal development of • • • extremities body axis, vertebral column cranium Lower extremity

Normal development

Normal development

Normal development

Normal development Clavicula

GA 19 W Costae and columna vertebralis Normal development GA 11½ W 94 -02 GA 12½ W 1803 -88 HH 01 -94

Normal development Pattern of ossification

Normal development Os nasale

Normal development • • • extremities body axis, vertebral column cranium Cranium

Normal development Le Douarin, 1974 Larsen WJ. Human Embryology, 2001

Normal developmental fields

CRL=67 mm CRL=119 mm CRL=151 mm

Basilar part of occipital bone

Pars basilaris os occipitale

Spranger JW et al. 1982

Spontaneous abortions?

Hand malformations Meckel-Grubers syndrom, GA 23 W

Holoprosencephaly Cleft lip

Holoprosencephaly face

Holoprosencephaly brain Jean Keeling

Holoprosencephali Holoprosencephaly skeleton

Holoprosencephaly cranium

Crouzon syndrome, 10 q 26

Body axes in different genotypes (pink: Always malformed)

Basial part of occipital bone in different malformations

Trisomy 21

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Turner syndrome Turner Syndrome

Turner syndrome

Turner syndrome hand

Anencephaly

Kjær et al, 1994

Fetal amniotic band sequence Keeling and Kjær, 1994

Keeling and Kjær, 1994

Thanks to fetal pathologists: Jean Keeling, UK Birgit Fischer Hansen, DK Powerpoint: Eva Marie Reinwald