Congenital and Developmental

Conditions
Dr. Christopher J. Knsel,
Associate Professor in Bioarchaeology,
Department of Archaeology,
University of Exeter,
Laver Building,
North Park Road,
Exeter, Devon, EX4 4QE
United Kingdom

Congenital Abnormality:
A physiological or structural abnormality
that develops at or before birth and is
present at the time of birth, regardless of
causation. Such abnormalities can be a
result of genetic factors or those acquired
between fertilisation and birth (e.g. from
faulty development, infection, heredity, or
injury). These anomalies may be apparent
at birth or can develop years later.

Inheritance

Translocation in Downs Syndrome

(Trisomy 21)
Affected Children in
Dominant Inheritance

Karyotype Trisomy 21

http://pediatrics.about.com/library/pictures/bl_down_syndrome.htm

Downs Syndrome

http://www.fotosearch.com/photos-images/

small maxilla
Brothwell, D.R. (1960). A possible case
of mongolism in a Saxon population.
thin cranial bones
Annals of Human Genetics (London) 24:
141-150.
hyperbrachicrany
small sphenoid body
high basi-occipital angle
saddle-shaped nasal bones
microcephaly

Breedon on the Hill,

Leicestershire, Anglo-Saxon

Genetic Disorders: Dwarfism

Achondroplasia: Autosomal Dominant (predominance 1 in 25,000,

Mutation in fibroblast growth factor receptor gene 3 (FRFG3))

Intersex
Conditions Arising during
Sexual Differentiation

Gametes, X and Y

Klinefelters
Syndrome,
47,XXY
broad hips
gynecomastia
small genitalia
narrow shoulders
small hat size
female type adipose
tissue deposition
long tibiae
sterile or reduced fertility
hypogonadism
(reduced testosterone,
high follicle-stimulating and
luteinizing hormones)

Non-Metric Skeletal Variation:

Discontinuous, Epigenetic Traits
Rather than revealing relatedness of individuals, the
presence of these traits may indicate congenital
abnormalities or syndromes.

Discontinuous/Non-Metric Traits

Costo- and acromio-clavicular facets MSMs and humeral septal aperture

Os acromiale:
Developmental
or ActivityRelated?

Cranial Non-Metric Traits

Complex Suture Patterns: Wormian

Bones/Lambdoidal Ossicles

Persistent Metopic Suture

Aberrant Intra-Uterine Placement

(Lie) and Birth Trauma

Abnormal Birth Presentation

Manipulation to correct breech delivery

Breech presentations, c: talipes
equinovarus,and breech head; d:
dislocated hips (hip dysplasia) due to
frank position

Source: Graham, J.M. (2007). Smiths

Recognizable Patterns of Human Deformation.
(Third Edition). Elsevier, Philadelphia.

Congenital Hip Dysplasia: Dislocation

(Luxation) and Pseudarthrosis)

Congenital
Hip Dysplasia

Chichester 13
50-year-old male

Hip Dysplasia
(Perthes Disease)

adolscent coxa vara

Chichester 13,
50-year-old male

Varus versus Valgus Deformity

Source: Salter, R.B. (1999). Textbook of Disorders and Injuries of the

Musculoskeletal System (Third Edition). Williams and Wilkins,
Baltimore (MD).

Talipes Equinovarus

Source: http://pediatrics.about.com/od/healthpictures/ig/Club-Foot-Picture-Gallery/Babywith-Clubfeet.htm

Kingsholm 131: 16-20 yrs of age at

death, Roman Period Gloucester

Enamel Hypoplastic Lines and Anterior Dental Crowding

Changes in the
Limb Elements

The Lower Limb Elements

The Ankle
Articulations

The Foot and Ankle Appearance

Roberts, C.A., Knsel, C.J., and Race, L. 2004 A foot deformity from a Romano-British cemetery at
Gloucester, England, and the current evidence for Talipes in palaeopathology. International Journal of
Osteoarchaeology 14(5): 389-403. (ISSN: 1047-482X)

Osteochondrites

Perthes Disease
Metatarsal Epiphysis
Freibergs Infracture

Kohlers Disease of the navicular

Osteochondritis Dissecans Osgood-Schlatters Disease

Brough St. Giles 1423

Internal Pin Fixation and Prosthetic Hip-Joint

Vertebral Anomalies

Scoliosis

Scheuermanns Disease (juvenile kyphosis)

Facial Development

Cleft palate variation with

secondary cleft lip

Palatal
development: 6, 78, 9 embryonic
months and the
newborn palate

Embryonic development
of the face

Cleft palate variations due to

developmental delay of the palatal
process of the maxilla

Mid-line Clefting

Vertebral Non-Metric Traits

Spina bifida occulta

Spondylolysis Healed and Unhealed

Sacralisation of L5

Spondylolisthesis of L5 on S1
secondary to spondylolysis (Motley
et al., 1998)

Spondylolysis
with
Spondylolisthesis

Motley, G., Nyland, J., Jacobs, J. and Caborn, D.N.M. 1998. The Pars Interarticularis stress reaction, spondylolysis,
and spondylolisthesis progression. Journal of Athletic Training 33(4): 351-358.

Mid-line Defects

Sclerotome formation with the Neural tube defects of the neural arch
inferior part of the second cervical
vertebra failing to differentiate
properly

Vertebral Cranial and Caudal Shifts

Craniometrical Analysis: Old

Data Applied to New Questions

Note Position of Porion

Growth in Head Circumference, Boys and Girls

Abnormal (Premature)
Craniosynostosis
a. sagittal suture with scaphocephaly
b. coronal suture
1. unilateral with plagiocephaly
2. bilateral with brachycephaly
c. coronal and lambdoidal suture with
oxycephaly
d. coronal and sagittal sutures (often
Crouzons Syndrome)
e. Lambdoidal suture
1. unilateral with plagiocephaly
2. bilateral with brachycephaly
f. Metopic suture with trigonocephaly

Premature Craniosynostosis

Diagrams and 3D-CT images of A.

bilateral coronal synostosis, B. left
lambdoid synostosis, and C. right
right occipital plagiocephalic
deformation

Diagrams and 3D-CT images

of A. sagittal, B. metopic, and
C. right coronal synostosis

Premature
Craniosynostosis

Nine-year-old girl with an

untreated lambdoidal synostosis

Lambdoidal synostosis

Source: Graham, J.M. (2007). Smiths

Recognizable Patterns of Human Deformation.
(Third Edition). Elsevier, Philadelphia.

Premature Craniosynostosis

Complete synostosis of right and

left coronal sutures

Six-week-old infant with

sagittal synostosis
(scaphocephaly)

Source: Graham, J.M. (2007). Smiths Recognizable Patterns of Human

Deformation. (Third Edition). Elsevier, Philadelphia.

Premature Craniosynostosis

Metopic suture synostosis

Multiple synostoses of the sagittal,

coronal, and lambdoidal sutures and
repair through calvarectomy

Due to crowding in the womb in

monozygotic triplets

Chichester
38

Hydrocephalus (Water on the Brain)

Due to excessive amount or abnormal accumulation of cerebro-spinal fluid in the lateral,

third, or fourth ventricles of the brain in the sub-arachnoid space
Mental developmental effects- lethargy
Without treatment, 50% of affected children die within the first 5 years of life
25% are congenital
Trauma, tumours, and infection are also aetiologies
Large, globular cranium
Thin cranial bones
Bulging fontanelles and widely separated sutures
Wormian bones present
Atrophy of supra-orbital ridges
Flattening of cranial base

The Brain in Cross-Section

Hydrocephaly

Ventricular expansion due to excess cerebro-spinal fluid

Normal

Hydrocephalus:
Abnormal Cranial
Vault Expansion

Ventricular expansion

Left ventricular expansion

http://www.google.com/search?client=safari&rls=en&q=hydrocephalus&ie=UTF-8&oe=UTF-8

Segmentation Errors in
the Sclerotomes

Block vertebrae

Source:Barnes, E. (1994). Developmental Defects of the

Axial Skeleton in Paleopathology. Niwot (CO.), University
of Colorado Press.

Klippel-Feil Syndrome

Short and webbed neck

Multiple fused cervical
and/or thoracic vertebrae

Source: Graham, J.M. (2007).

Smiths Recognizable Patterns
of Human Deformation. (Third
Edition). Elsevier,
Philadelphia.

Torticollis (Wryneck Deformity): Signs

Asymmetry of mandibular fossae

Deviation of ascending ramus on affected side
Twisting of cranial vault parasagittally
Plagiocephaly (reduced basion-bregma height)
Dropped orbit on affected side
Twisting of cranial base parasagittally
Asymmetrical mastoid processes (most noticeable, even
in fragmented remains
Incidence 0.3%-19.9%
Cranial nerve XI (Acessory) or M. sternocleidomastiod
affected by tear or unusual placement of infant in utero

Fibrotic torticollis of left

M. sternocleidomastiodeus

Three-year-old girl with untreated severe

torticollis/plagiocephaly, facial and cervical
asymmetry radiographs showing facial and cervical
asymmetry

Source: Graham, J.M. (2007).

Smiths Recognizable Patterns
of Human Deformation. (Third
Edition). Elsevier, Philadelphia.

Torticollis musculaire dans une jeune fille de 10

ans/Muscular torticollis in a 10 year-old girl

Modifie aprs Salter 1999

Aged 7 years,
11 months

Aged 20 years

Aged 73 years

Ms. Kathleen Trott

Affected Right Side

Unaffected Left Side

William Arbuthnot Lane (1856-1943,

Guys Hospital, London, Surgeon (1886:
391):

In torticollis occurring at an early

period of life, we see what
appears to be an atrophic or a less
developed condition of the head
and face on the affected side
Lane, W.A. 1886. Some variations in the human skeleton. Journal
Anatomy and Physiology 22: 593-628.

Norma lateralis sinistra

Aprs Rolley 2003

Basal views of the cranium

Vues basales du crne

Modifie aprs Rolley 2003

Dysplasie de loccipital/ Occipital dysplasia

Modifie aprs Sauter 1980

Muscular Torticollis

Alexander the Great

(July 20 356 BC 10 June 323 BC)

Lucus Munatius Plancus,

(ca. 87 BC-15 BC),
Proconsul
of Gallia Comata

Muscular Torticollis in the Plantagenets, Kings of England?

Edmund Crouchback
(Crossed Back), First Earl
of Lancaster and Earl of
Leicester, Son of Henry III
and Brother of Edward I,
Edmund was Father of
Asymmetry of facial features of King
Henry Tortcol (Twisted
Edward I of England, 1272-1307,
Longshanks*/Hammer of the Scots Neck) Plantagenet, Third
Earl of Lancaster and Earl of
Leicester
*188 cm, 62 tall

Effigy to Edmund Crouchback,

Earl of Leicester and Lancaster,
1245-1296

Second surviving son of King Henry III and

Eleanor of Provence
Participated in 9th Crusade to Palestine in 1271
Buried in Westminster Abbey in 1296