Inger KjærProfessor, Dr Odont et Dr MedFaculty of Health SciencesInstitute of OdontologyUniversity of Copenhagen, Denmark

Normal and pathological development

of the human skeleton

before 21 weeks GA

2015 IPPA Update CourseAustralia, 22nd-27th November 2015

Spranger JW et al. 1982

Normal development 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 CRL 31 mm, GA 9 WNormal development Normal development

CRL 30 mm, GA 9 W

CRL 40 mm, GA 10 W

Normal development Normal development

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

Normal development Normal development

Normal development sequence, morphology and developmental courses

The hand

GA 16 weeks

Normal development Normal development

CRL 31 mm, GA 9 WNormal development of

•extremities•body axis, vertebral column•cranium

Lower extremity

Normal development Normal development

Normal development Normal development

Normal development Normal development

Normal developmentNormal development

Clavicula

HH 01-941803-8894-02

GA 11½ WGA 12½ W

GA 19 WCostae and columna vertebralisCostae and columna vertebralisNormal developmentNormal development

Pattern of ossificationPattern of ossification

Normal development Normal development

Os nasaleNormal development Normal development

Normal development

•extremities•body axis, vertebral column•cranium

Cranium

Le Douarin, 1974

Larsen WJ. Human Embryology, 2001

Normal development Normal development

Normal developmental fields 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?

Meckel-Grubers syndrom, GA 23 W

Hand malformations

Holoprosencephaly Cleft lip

Holoprosencephaly face

Holoprosencephaly brain

Jean Keeling

HoloprosencephaliHoloprosencephaly skeleton

Holoprosencephaly cranium

Crouzon syndrome, 10q26

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

Keeling and Kjær, 1994Keeling and Kjær, 1994

Fetal amniotic band sequence

Keeling and Kjær, 1994Keeling and Kjær, 1994

Thanks to fetal pathologists:Jean Keeling, UKBirgit Fischer Hansen, DK

Powerpoint: Eva Marie Reinwald