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.

Affected Children in

Dominant Inheritance

Translocation in Downs Syndrome

(Trisomy 21)

Inheritance

Karyotype Trisomy 21

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

Downs Syndrome

Breedon on the Hill,

Leicestershire, Anglo-Saxon

small maxilla

thin cranial bones

hyperbrachicrany

small sphenoid body

high basi-occipital angle

saddle-shaped nasal bones

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

Brothwell, D.R. (1960). A possible case

of mongolism in a Saxon population.

Annals of Human Genetics (London) 24:

141-150.

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 Activity-

Related?

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

Breech presentations, c: talipes

equinovarus,and breech head; d:

dislocated hips (hip dysplasia) due to

frank position

Manipulation to correct breech delivery

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/Baby-

with-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

Osgood-Schlatters Disease

Metatarsal Epiphysis

Freibergs Infracture

Osteochondritis DissecansKohlers Disease of the navicular

Perthes Disease

Brough St. Giles 1423

Internal Pin Fixation and Prosthetic Hip-Joint

Vertebral Anomalies

Scheuermanns Disease (juvenile kyphosis)Scoliosis

Facial Development

Cleft palate variations due to

developmental delay of the palatal

process of the maxilla

Cleft palate variation with

secondary cleft lip

Palatal

development: 6, 7-

8, 9 embryonic

months and the

newborn palate

Embryonic development

of the face

Mid-line Clefting

Vertebral Non-Metric Traits

Spina bifida occulta

Sacralisation of L5Spondylolysis Healed and Unhealed

Spondylolysis

with

Spondylolisthesis

Spondylolisthesis of L5 on S1

secondary to spondylolysis (Motley

et al., 1998)

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

inferior part of the second cervical

vertebra failing to differentiate

properly

Neural tube defects of the neural arch

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. sagittal, B. metopic, and

C. right coronal synostosis

Diagrams and 3D-CT images of A.

bilateral coronal synostosis, B. left

lambdoid synostosis, and C. right

right occipital plagiocephalic

deformation

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

Recognizable Patterns of Human Deformation.

(Third Edition). Elsevier, Philadelphia.Lambdoidal synostosis

Nine-year-old girl with an

untreated lambdoidal synostosis

Premature

Craniosynostosis

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

Deformation. (Third Edition). Elsevier, Philadelphia.

Six-week-old infant with

sagittal synostosis

(scaphocephaly)

Complete synostosis of right and

left coronal sutures

Premature Craniosynostosis

Premature Craniosynostosis

Multiple synostoses of the sagittal,

coronal, and lambdoidal sutures and

repair through calvarectomy

Metopic suture synostosis

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 fluidNormal

Ventricular expansion Left ventricular expansion

Hydrocephalus:

Abnormal Cranial

Vault Expansion

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

Segmentation Errors in

the Sclerotomes

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

Axial Skeleton in Paleopathology. Niwot (CO.), University

of Colorado Press.Block vertebrae

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, evenin fragmented remains

Incidence 0.3%-19.9%

Cranial nerve XI (Acessory) or M. sternocleidomastiodaffected by tear or unusual placement of infant in utero

Three-year-old girl with untreated severe

torticollis/plagiocephaly, facial and cervical

asymmetry radiographs showing facial and cervical

asymmetry

Fibrotic torticollis of left

M. sternocleidomastiodeus

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

Ms. Kathleen Trott

Unaffected Left SideAffected Right Side

Aged 7 years,

11 monthsAged 20 years Aged 73 years

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

Asymmetry of facial features of King

Edward I of England, 1272-1307,

Longshanks*/Hammer of the Scots

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

Henry Tortcol (Twisted

Neck) Plantagenet, Third

Earl of Lancaster and Earl of

Leicester

Muscular Torticollis in the Plantagenets, Kings of England?

*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