congenital condition 121249
DESCRIPTION
lecture on congenital conditions and archaeologyTRANSCRIPT
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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
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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.
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Affected Children in
Dominant Inheritance
Translocation in Downs Syndrome
(Trisomy 21)
Inheritance
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Karyotype Trisomy 21
http://pediatrics.about.com/library/pictures/bl_down_syndrome.htm
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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.
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Genetic Disorders: Dwarfism
Achondroplasia: Autosomal Dominant (predominance 1 in 25,000,
Mutation in fibroblast growth factor receptor gene 3 (FRFG3))
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Intersex
Conditions Arising during
Sexual Differentiation
Gametes, X and Y
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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)
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Non-Metric Skeletal Variation:
Discontinuous, Epigenetic Traits
Rather than revealing relatedness of individuals, the
presence of these traits may indicate congenital
abnormalities or syndromes.
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Discontinuous/Non-Metric Traits
Costo- and acromio-clavicular facets MSMs and humeral septal aperture
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Os acromiale:
Developmental
or Activity-
Related?
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Cranial Non-Metric Traits
Complex Suture Patterns: Wormian
Bones/Lambdoidal Ossicles Persistent Metopic Suture
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Aberrant Intra-Uterine Placement
(Lie) and Birth Trauma
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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.
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Congenital Hip Dysplasia: Dislocation
(Luxation) and Pseudarthrosis)
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Congenital
Hip Dysplasia
Chichester 13
50-year-old male
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Hip Dysplasia
(Perthes Disease)
adolscent coxa vara
Chichester 13,
50-year-old male
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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).
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Talipes Equinovarus
Source: http://pediatrics.about.com/od/healthpictures/ig/Club-Foot-Picture-Gallery/Baby-
with-Clubfeet.htm
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Kingsholm 131: 16-20 yrs of age at
death, Roman Period Gloucester
Enamel Hypoplastic Lines and Anterior Dental Crowding
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Changes in the
Limb Elements
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The Lower Limb Elements
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The Ankle
Articulations
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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)
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Osteochondrites
Osgood-Schlatters Disease
Metatarsal Epiphysis
Freibergs Infracture
Osteochondritis DissecansKohlers Disease of the navicular
Perthes Disease
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Brough St. Giles 1423
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Internal Pin Fixation and Prosthetic Hip-Joint
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Vertebral Anomalies
Scheuermanns Disease (juvenile kyphosis)Scoliosis
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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
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Mid-line Clefting
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Vertebral Non-Metric Traits
Spina bifida occulta
Sacralisation of L5Spondylolysis Healed and Unhealed
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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.
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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
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Vertebral Cranial and Caudal Shifts
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Craniometrical Analysis: Old
Data Applied to New Questions
Note Position of Porion
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Growth in Head Circumference, Boys and Girls
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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
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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
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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
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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
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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
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Chichester
38
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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
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The Brain in Cross-Section
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Hydrocephaly
Ventricular expansion due to excess cerebro-spinal fluidNormal
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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
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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
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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.
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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
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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.
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Torticollis musculaire dans une jeune fille de 10
ans/Muscular torticollis in a 10 year-old girl
Modifie aprs Salter 1999
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Ms. Kathleen Trott
Unaffected Left SideAffected Right Side
Aged 7 years,
11 monthsAged 20 years Aged 73 years
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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.
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Norma lateralis sinistra
Aprs Rolley 2003
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Basal views of the cranium
Vues basales du crne
Modifie aprs Rolley 2003
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Dysplasie de loccipital/ Occipital dysplasia
Modifie aprs Sauter 1980
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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
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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
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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