Normal and pathological development of the human skeleton

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Normal and pathological development of the human skeleton before 21 weeks GA 2015 IPPA

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

Spranger JW et al. 1982

Normal development • extremities • body axis, vertebral column • cranium Questions to ask:

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

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

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 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 sequence, morphology and developmental courses The hand GA 16 weeks

Normal development

Normal development

CRL 31 mm, GA 9 W Normal development of • • • extremities body

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

Normal development

Normal development

Normal development Clavicula

Normal development Clavicula

GA 19 W Costae and columna vertebralis Normal development GA 11½ W 94 -02

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 Pattern of ossification

Normal development Os nasale

Normal development Os nasale

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

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

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

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

Normal developmental fields

Normal developmental fields

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

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

Basilar part of occipital bone

Basilar part of occipital bone

Pars basilaris os occipitale

Pars basilaris os occipitale

Spranger JW et al. 1982

Spranger JW et al. 1982

Spontaneous abortions?

Spontaneous abortions?

Hand malformations Meckel-Grubers syndrom, GA 23 W

Hand malformations Meckel-Grubers syndrom, GA 23 W

Holoprosencephaly Cleft lip

Holoprosencephaly Cleft lip

Holoprosencephaly face

Holoprosencephaly face

Holoprosencephaly brain Jean Keeling

Holoprosencephaly brain Jean Keeling

Holoprosencephali Holoprosencephaly skeleton

Holoprosencephali Holoprosencephaly skeleton

Holoprosencephaly cranium

Holoprosencephaly cranium

Crouzon syndrome, 10 q 26

Crouzon syndrome, 10 q 26

Body axes in different genotypes (pink: Always malformed)

Body axes in different genotypes (pink: Always malformed)

Basial part of occipital bone in different malformations

Basial part of occipital bone in different malformations

Trisomy 21

Trisomy 21

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Turner syndrome Turner Syndrome

Turner syndrome Turner Syndrome

Turner syndrome

Turner syndrome

Turner syndrome hand

Turner syndrome hand

Anencephaly

Anencephaly

Kjær et al, 1994

Kjær et al, 1994

Fetal amniotic band sequence Keeling and Kjær, 1994

Fetal amniotic band sequence Keeling and Kjær, 1994

Keeling and Kjær, 1994

Keeling and Kjær, 1994

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

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