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2008 Wiley-Liss, Inc.

American Journal of Medical Genetics Part A 146A:3104 3112 (2008)

Historical Review

Skeletal Dysplasia in Ancient Egypt


Chahira Kozma1*
1

Department of Pediatrics, Georgetown University Hospital, Washington, District of Columbia


Received 14 April 2008; Accepted 30 June 2008

The ancient Egyptian civilization lasted for over 3000 years


and ended in 30 BCE. Many aspects of ancient Egyptian
culture, including the existence of skeletal dysplasias, and
in particular achondroplasia, are well known through the
monuments and records that survived until modern times.
The hot and dry climate in Egypt allowed for the preservation of bodies and skeletal anomalies. The oldest dwarf
skeleton, the Badarian skeleton (4500 BCE), possibly represents an epiphyseal disorder. Among the remains of dwarfs
with achondroplasia from ancient Egypt (26862190 BCE),
exists a skeleton of a pregnant female, believed to have died
during delivery with a babys remains in situ. British
museums have partial skeletons of dwarfs with achondroplasia, humeri probably affected with mucopolysaccharidoses, and a skeleton of a child with osteogenesis imperfecta.
Skeletal dysplasia is also found among royal remains. The
mummy of the pharaoh Siptah (13421197 BCE) shows a
deformity of the left leg and foot. A mummified fetus,

believed to be the daughter of king Tutankhamun, has


scoliosis, spina bifida, and Sprengel deformity. In 2006
I reviewed the previously existing knowledge of dwarfism in
ancient Egypt. The purpose of this second historical review is
to add to that knowledge with an expanded contribution. The
artistic documentation of people with skeletal dysplasia from
ancient Egypt is plentiful including hundreds of amulets,
statues, and drawing on tomb and temple walls. Examination
of artistic reliefs provides a glance of the role of people with
skeletal dysplasia and the societal attitudes toward them.
Both artistic evidence and moral teachings in ancient Egypt
reveal wide integration of individuals with disabilities into
the society. 2008 Wiley-Liss, Inc.

Key words: skeletal dysplasia; dwarfs; dwarfism; pigmy;


achondroplasia; ancient Egypt; osteogenesis imperfecta;
short stature; mummy; disability

How to cite this article: Kozma C. 2008. Historical review II: Skeletal dysplasia in ancient Egypt.
Am J Med Genet Part A 146A:31043112.

INTRODUCTION

Around 5000 BCE, a highly advanced culture


developed in northeastern Africa along the banks
of the Nile River marking the beginning of over
3,000 years of pharaonic civilization (Table I).
Impressive monuments were erected in the name
of kings including massive temples, pyramids for
royal burials, and obelisks. Complex cities were
unified under a single state government that joined
Upper and Lower Egypt. Texts written on papyrus,
temple walls, and tombs helped reveal the complex
administration of the country as well as many aspects
about the life of this ancient society, including that of
people with skeletal dysplasia. While many types of
dwarfism and short stature were documented in
ancient Egypt, most skeletal remains and artistic
pictures identify achondroplasia as the most common type of short stature. However, the evidence of
other types of skeletal dysplasia is plentiful including
biological, artistic, and written documentation. The
hot, dry climate and elaborate burial and mummifi-

cation systems allowed the preservation of skeletal


remains.
In a previous historical review [Kozma, 2006],
the author exclusively reviewed dwarfism and
achondroplasia in ancient Egypt. The purpose of
the second review is to expand on the different types
of skeletal dysplasia, and to inform the medical
community of the rich legacy of ancient Egyptian
civilization, in particular their positive attitudes
toward individuals with disabilities. Because this
article is intended to be comprehensive, it contains a
brief discussion about dwarfism and achondroplasia,
and includes all available figures of skeletons, some
of which were already published in the first review.

*Correspondence to: Chahira Kozma, M.D., 2PHC, Department of


Pediatrics, Georgetown University Hospital, 3800 Reservoir Rd, N.W.,
Washington, DC 20007. E-mail: kozmac@georgetown.edu
Published online 12 November 2008 in Wiley InterScience
(www.interscience.wiley.com)
DOI 10.1002/ajmg.a.32501

American Journal of Medical Genetics Part A


SKELETAL DYSPLASIA IN ANCIENT EGYPT
TABLE I. Ancient Egypt Timeline
Prehistoric and Predynastic Periods
Early Dynastic Period
Old Kingdom
First Intermediate Period
Middle Kingdom
Second Intermediate Period
New Kingdom
Third intermediate Period
Late Period
Greco Roman Period

3100 BCE
31002700 BCE
27002184 BCE
21842040 BCE
20401782 BCE
17821570 BCE
15701070 BCE
1070747 BCE
747332 BCE
332AD

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symmetrical with the radial tuberosity and ligamentous prominences of the radii pronounced and the
set of the head more oblique than the normal. Upon
radiological examination, the texture of bones is
normal (Fig. 1). The author suggested that these

Ancient Egypt is considered to have begun about 31003050 BC. The


civilization had three flowerings, called by historians the Old, Middle, and
New Kingdoms, interrupted by mini-dark ages, called Intermediate Periods,
when Egypt was temporarily conquered by opposing empires [www.
thebanmappingproject.com].

The reader however, is encouraged to revisit the first


article for detailed information about achondroplasia, especially the artistic evidence, elite dwarfs, and
the discussion about the dwarfs gods, Bes and Ptah.
In general, the sources of evidence of skeletal
dysplasia in ancient Egypt come from biological
remains and artistic evidence. The artistic sources are
quite plentiful since the ancient Egyptians delighted
to have pigmies or dwarfs in their household, and
recorded many details of their life [Dasen, 1988].
Several elite dwarfs from the Old Kingdom achieved
very important status and had lavish burial in the
royal cemeteries. Furthermore, dwarfs gained scared
status and at least two gods, Ptah and Bes, were
achondroplastic dwarfs. Artistic sources, however,
can be open to bias interpretation; therefore biological sources are the most objective evidence of
the existence of genetic conditions. The remains of
people with skeletal dysplasia are abundant and
include complete and partial skeletons. Some of
these anomalies are catalogued and published in the
medical and archeological literature and some are
known from excavators account. Dwarfs in Ancient
Egypt and Greece, continues to provide a very
extensive review of dwarfs in ancient Egypt [Dasen,
1993].
BIOLOGICAL EVIDENCE OF SKELETAL
DYSPLASIA
The Badarian Skeleton

The earliest biological evidence for skeletal dysplasia in ancient Egypt dates to the Badarian Period
around 4500 BCE [Jones, 1932]. It was originally
located at the Museum of the Royal College of
Surgeons in England, and its current location is
unknown. With the exception of a mild flattening of
the angle of the base, the skull and mandible are
normal. The clavicles are slim, and the small bones of
the hands, the ribs, and the scapulae are normal. The
left humerus is quite short; its head pitted against
the fovea, very irregular, and lacks the even contour.
The radii and ulnae are remarkably small and

FIG. 1. The Badarian skeleton. (a) Skull, (b) mandibles, (c) clavicles,
(d) radii, (e) ulnae, (f) humeri, (g) vertebrae.

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abnormalities are not characteristic of achondroplasia and represent another type of short-limbed
dwarfism. Other experts have suggested the possibility of multiple epiphyseal dysplasia.
The Dwarf From the Tomb Complex
of King Wadj

The skeleton dates to 31002800 BCE and is


located at Cairo University, Egypt (Fig. 2). When
unearthed, the tomb was intact and contained four
different types of jars. The long bones are very short,
and the fibulae bowed. Initially the abnormalities
were thought to be secondary to rickets [Emery,
1954]. However, other Egyptologists attributed the
pathology to short limb dwarfism [Weeks, 1970].
The Dwarfs From the Tomb
of King Semerkhet

The skeletons date to 30502890 BCE and consist


of calvaria, facial bones, lower jaw, and long bones
(Fig. 3). The skull vault is of normal size. However,
the skull base is shortened due to the very short
basioccipital diameter. The shortened skull base
contributes to the appearance of a depression in
the middle third of the face. The nasal bones and the
frontal processes of the maxilla are broad. There is
prognathism of the alveolar portion of the maxilla.
The adult teeth erupted with minimal wear, and the
fused epiphyses and apophyses indicate young
adulthood. The long bones are very short. The tibiae
have slight medial bowing of the distal half and the
humerus is short, with the abnormal joint pathology
associated with achondroplasia. The diaphyses of all
the long bones have near normal diameters, indicat-

ing normal periostal bone formation [Putschar and


Ortner, 1985]. The measurements of the bones are as
follow: Femur: maximum length 250 mm, humerus:
maximum length 165 mm, fibula: maximum length
213 mm, tibia: maximum length 215 mm, tibia:
maximum length 202 mm, fibula: maximum length
227 mm, tibia maximum length 212 mm.
The Dwarf Pereniankh

Pereniankh was an elite dwarf who lived in the Old


Kingdom between 2350 and 2175 BCE. His statue
is on display at Cairo Museum, Cairo. His tomb
contained his skeleton and statue, and also those of
his wife [Hawass, 2004]. His funerary statue showing
him seated on a chair and wearing a short kilt. His
neck is short and thick. His extremities especially his
legs are short (Fig. 4). Examination of his skeleton
revealed that he was about 40 years old when he
died. The facial part of his skull is missing. The rest
of his skeleton showed the characteristics traits of
achondroplasia, short and squat upper and lower
limbs. When compared, the measurements of the
long limbs of the skeleton and those of the statue
were matched, and the conclusion was made that
there was a realistic attempt to model Pereniankh
skeletal disorder [Filer, 1995]. His legs are different
in size, possibly due to elephantiasis. Both sides of
his chair are inscribed with his name and titles, the
dancing dwarf in the Great Palace, the one who
pleased his majesty everyday, Per-ni-ankh-w.
Mucopolysaccharidoses

The Natural History Museum in London has a


specimen that consists of two humeri from early

FIG. 2. Left: A skeleton of a male with achondroplasia from the Old Kingdom. Right: A skeleton of an average size person from the same burial complex for
comparison. Courtesy of the Egypt Exploration Society, London.

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SKELETAL DYSPLASIA IN ANCIENT EGYPT

FIG. 3. Anterior view of skull and long bones of dwarfs. Specimen BMNH
AF.11.41427. Courtesy of the Natural History Museum, London. [Color figure
can be viewed in the online issue, which is available at www.interscience.
wiley.com.]

3107

FIG. 4. A funerary statue of the dwarf Pereniankh showing him seated on


a chair and wearing a short kilt. Cairo Museum, Cairo. [Color figure can be
viewed in the online issue, which is available at www.interscience.wiley.
com.]

dynastic Egypt [Brothwell, 1965]. Both humeri are


abnormally short. The diaphysis is normal in
diameter, with a well-developed deltoid tuberosity.
However, the humeral head exhibits severe malformation of the articular surface with pitting of the
subchondral plate, particularly on the right. The left
humerus is about 2 cm shorter than the right (Fig. 5).
Ortner and Putschar, however, argued against chondrodysplasia and suggested mucopolysaccharidoses
because of the almost complete failure in the
development of the epiphysis. The fusion of the
distal humeral epiphyses and apophyses indicates
a minimum age of about 14 or possibility of young
adulthood.
Osteogenesis Imperfecta

A rare example of osteogenesis imperfecta comes


from ancient Egypt, and dates to 1000 BCE. It consists
of a painted coffin and a skeleton of a small child. It is
believed that the coffin protected the skeleton, which
consists of skull bones, clavicles, ribs, long bones of
the upper and lower extremities and a few small
bones of the hands (Fig. 6). In general, the bones are
of a pale brown color, friable, and extremely light.
The skull is described to have the Tam OShanter

FIG. 5. Humeri with possible mucopolysaccharidoses. Specimen BMNH


AF.11.3/75. Courtesy of the Natural History Museum in London. [Color figure
can be viewed in the online issue, which is available at www.interscience.
wiley.com.]

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FIG. 7. The mummy of pharaoh Siptah showing a deformity of the left leg
and foot. Cairo Museum, Cairo.
FIG. 6. A skeleton of a child with osteogenesis imperfecta. Registry # 41603.
Courtesy of the British Museum of London.

effect (a tight-fitting Scottish cap). The weight of the


brain cannot be supported and settled into a beret
like effect. The skull has an enlarged vault with
multiple wormian bones and ossification centers.
Most of the teeth were scattered amongst the
bones. They are brittle, discolored, and have poorly
developed roots. Furthermore, the teeth have a
disorder of the tubular structure of the dentine,
which is compatible with dentinogenesis imperfecta.
The long bones were deformed and the bones of
the lower extremities are showing significant anterolateral bowing. Radiographic examination of the
bones showed the cortex to be composed of thin
wavy lines, and the spongiosa being reduced to
scattered amorphous wisps [Gray, 1970].

The Stillborn Children of


King Tutankhamun

King Tutankhamun (13411323 BCE) was probably the son of Amenhotep IV (better known as
Akhenaten) and Kia, a minor queen. King Tutankhamun was married to Ankhesenamun, his half sister
and the daughter of Akhenaten and his famous wife,
queen Nefertiti. It is believed that they had two
children, both stillborn. Both fetuses were embalmed
and enclosed in miniatures coffins in the tomb of
king Tutankhamun. The first fetus, a female, was
estimated to be about 5 months of gestation. The
second fetus, also a female, was about 8 or 9 months
gestation. When the body was examined and
X-rayed, it was found to have scoliosis, spina bifida,
and Sprengel deformity which is a condition where

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SKELETAL DYSPLASIA IN ANCIENT EGYPT

the scapula on one or both sides are underdeveloped


and abnormally high [Harrison et al., 1979].

and disproportionate short upper and lower limbs


[Baines, 1992].

The Pharaoh Siptah

Dwarf Gods

The mummy of the pharaoh Siptah (11941188


shows a clear deformity of the left leg and foot
(Fig. 7) due to either poliomyelitis, clubfoot deformity, or cerebral palsy [Smith, 2000]. The diagnosis
of poliomyelitis continues to be debated after the
mummy was reexamined [Aufderheide and Rodriquez-Martin, 1998]. It was observed that the left
foot compensated the shorter leg by dislocation of
the tarsal and metatarsal bones, tendon and muscles.
The mummy is on display in the Royal Mummy Room
in Cairo Museum, Cairo.

In ancient Egyptian society, dwarfs were also in the


form of gods. The dwarf gods, Ptah and Bes were the
best known and were involved in magical practices
to protect the living and the dead.

BCE)

ARTISTIC EVIDENCE OF SKELETAL DYSPLASIA

Since Predynastic Times, many dwarf statuettes


were found in burial places suggesting that they
were prized enough to accompany the deceased to
the after life [Randall, 1985]. The artistic evidence
of skeletal dysplasia, especially of dwarfs, is quite
abundant and covers the full spectrum of Egyptian
civilization [Dawson, 1938]. Among the treasures of
King Tutankhamun, there is a female dwarf that
has the typical characteristics of achondroplasia. In
addition, she has bowed legs and clubfeet deformity.
Elite Dwarfs

There were several high-ranking dwarfs, especially


from the Old Kingdom (26862190 BCE), who had
magnificent burial sites close to the pyramids.
Conclusions can be drawn from the inscriptions on
their costly tombs and captions on their statues,
about the roles they played in ancient Egyptian
society, and their close relation to the king [Hamada
and Rida, 1972]. Some of them were Seneb,
Pereniankh, Khnumhotpe, and Djeder [Ghalioungui
et al., 1965]. The dwarf Seneb who lived during
the 4th or early 5th Dynasty had a very important
position. He was overseer of the palace dwarfs, chief
of the royal wardrobe, and priest of the funerary cult
of the pharaoh Khufu who ruled Egypt between 2589
and 2566 BCE. An exquisite statue depicts Seneb with
his priestess wife who was of average stature, and
two of his three children at Cairo Museum. He was
buried at the royal necropolis in Giza. The dwarf
Khnumhotpe held the title of the Keeper of the
Royal Wardrobe. Another elite dwarf is Pereniankh
who was described in the section of biological
evidence. The dwarf Djeho who lived during the 30th
Dynasty has a very impressive representation in
Cairo Museum. He was an achondroplastic dwarf.
His life size naked figure, which measures 120 cm,
is carved in a profile on the lid of his granite
sarcophagus and shows superb details of his facial

The God Bes

The god Bes, the dwarf god of music and warfare,


was a very popular dwarf as well as the patron of
many functions. His cult lasted from the Old Kingdom until the Greco Roman Period [Hawass, 2000].
He was often depicted on household items, cosmetic
containers, and medicine bottles. He is represented
with a large skull and a prominent forehead. He has
proximal shortening of the upper and lower extremities. Frequently, he is shown in a hybrid nature
combining animal and feline features, and wearing a
monkey skin on his back. He was also featured in the
Mammisi or birth houses, which were located near
major temples (Fig. 8). Although the role of Bes has
evolved significantly through the Dynasties, his most
important function was the protection of women
during childbirth. In several papyri from 1539 to
1069 BCE, the magical power of dwarfs, perhaps the
god Bes, is appealed to protect women in childbirth
and delivery of the placenta. In a magical papyrus at
Leiden, there is a spell to facilitate birth, called the
spell of the dwarf: O good dwarf, come, because of
the one who sent you . . . come down placenta, come
down placenta, come down!

FIG. 8. A statue of the god Bes. Hathor Temple in Dendra, Upper Egypt.
[Color figure can be viewed in the online issue, which is available at www.
interscience.wiley.com.]

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KOZMA

The prayer was to be recited four times over a clay


figure of the dwarf god that had been placed on the
head of the woman in labor. In the spell of the Vulva,
the woman in labor pain screams: To the man for a
dwarf-statute of clay [Borghouts, 1971].

and Giza (Fig. 10). They performed many societal


roles including jewelers, animal tenders, personal
attendants, dancers, fishermen, and nurses [Sampsell,
2001].

The God Ptah

A funerary stela that dates to the 18th or 19th


Dynasty shows the doorkeeper Roma with a leg
abnormality, which required him to use a cane. The
leg is wasted and shortened and accompanied by
an equinus deformity of the foot (Fig. 11). The exact
nature of this deformity, however, continues to
be debated. Some favor that Romas deformity is
the result of a congenital clubfoot deformity with
a secondary wasting and shortening of the leg. The
other view is that of a case of poliomyelitis contracted
in childhood before the completion of skeletal
growth [Nunn, 1996].

The god Ptah was the master architect of the


universe. He was a god of creation and, according to
different traditions, either fashioned man or created
things by speaking their names. He was a god of
craftsmen, artisans and artists designers, builders,
architects, masons, and metal workers [Aterman,
1999]. He is shown in human form as a bearded man
wearing a skullcap and shrouded as a mummy.
Occasionally, he is depicted as a dwarf with
achondroplasia [Melzer, 1986]. In his dwarf form,
the god Ptah is quite distinct from the god Bes. He is
naked with short limbs, has a relatively long trunk,
and a large head with prominent forehead. He
typically does not carry weapons. Sometimes he is
shown grasping and biting snakes to highlight his
protective role against harmful creatures threatening
ancient Egyptian people (Fig. 9).
Ordinary Dwarfs

Dwarfs were frequently depicted in Old Kingdom


royal and noble tombs in the necropolises of Saqqara

The Doorkeeper Roma

The Queen of Punt

During the ninth year of her reign, Queen


Hatshepsut, who ruled Egypt between 1479 and
1457 BCE, dispatched an expedition to the land of
Punt to obtain precious commodities. The land of
Punt is thought to be near present-day Somalia and
Eritrea. The details of the expedition, including
portraits of the prince and Queen of Punt, are
recorded on the walls of Deir El Bahri temple, in
Upper Egypt. The queen of Punt has an unusual
figure. Her face is rough and rugged. She is obese
with multiple skin folds and symmetrical deposits
of fat on the trunk, limbs, and thighs. Her upper
extremities and hands are normal except for the
excess skin folds. Her legs are very short. Her spine is
bent forward due to significant lordosis (Fig. 12). The
queens daughter has a similarly but less pronounced
appearance, which may suggests a familial pattern.
The illustration of the queen of Punt continues to
arouse the curiosity of physicians and Egyptologists
alike. Several differential diagnoses have been proposed to explain the queen pathology including
Launois Bensaude lipomatosis, Dercum disease
(significant fat accumulation), neurofibromatosis
type I, lipodystrophy, achondroplasia, familial obesity, Proteus syndrome, elephantiasis, and X linked
dominant hypophosphatemic rickets. Steatopygia
has been suggested. It refers to significant fat
accumulation in and around the buttocks and is
usually seen as a normal variant in some tribes in
South West Africa. Recently Farag and Iskandar
coined a new pathology Queen of Punt Syndrome
[Farag et al., 1999]. Without a mummy, her condition
persists to be a diagnostic dilemma given rise to
numerous speculations.
The Pygmies Dancers

FIG. 9. The god Ptah standing on heads of two crocodiles and holding
snakes in each hand. At sides, two standing goddesses. Catalogue # 48.1602.
Courtesy of the Walters Art Museum, Baltimore, Maryland.

Cairo Museum has three pygmy dancers that date


to the Middle Kingdom (19901780 BCE). The

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SKELETAL DYSPLASIA IN ANCIENT EGYPT

3111

FIG. 10. A statue of a male dwarf carrying a load on his back. Courtesy of the Oriental Institute. Chicago, USA.

statues are part of an ivory toy. They are connected to


a string, and danced when the string was pulled.
They represent a realistic depiction of pygmies who
were imported to ancient Egypt from Central Africa
for their dancing ability. They have round faces,
broad noses, and thick lips. Contrary to achondroplastic dwarfs, their bodies are stout and proportionately short [Martino, 2005]. They have bulging
buttocks and bowed legs, which is typical of pygmies
of Southern Africa.
CONCLUSION

The artistic sources and biological evidence


provide a rich legacy and documentation of the

FIG. 11. The Doorkeeper Roma with his wife and child (15501080 BCE).
Specimen IN 134. Courtesy of New Carlsberg Glyptotek, Copenhagen.
[Color figure can be viewed in the online issue, which is available at www.
interscience.wiley.com.]

positions of individuals with skeletal dysplasia in


daily life in ancient Egypt, and their acceptance in
the society. In the tombs of some high officials,
individuals with disabilities are depicted along side
the deceased. In the tomb of Baqt I who was an elite
man, there is a dwarf, a man with hunchback, and a
man with clubfeet, who accompany the tomb owner
in the after life (Fig. 13). It is believed that these
men had a prestigious status due to their proximity
to the tomb owner and wearing pointed kilts
[Newberry, 1893].
The ancient Egyptians had a positive attitude
toward individuals with disabilities. Physical deformity may have been received as a positive mark of
divinity [Sullivan, 2001]. They followed a strict moral
conduct as expressed in their wisdom teaching.
Amenemope, a wise man who lived in 1391
1354 BCE said [Simpson, 1973]:

FIG. 12. A relief of the queen of Punt from Deir El Bahari Temple. jde 14276.
Cairo Museum, Cairo. [Color figure can be viewed in the online issue, which is
available at www.interscience.wiley.com.]

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3112

KOZMA

FIG. 13. The sketch depicts a dwarf, a man with a hunchback, and a man with
clubfeet who accompany a noble man in the after life.

Beware of stealing from a miserable man,


And of raging against the cripple. Do not stretch
out your hand to touch an old man, Nor snip at
the words of an elder.
He moreover recommended respect and tolerance
for individuals with disabilities:
Do not jeer at a blind man nor tease a dwarf,
Neither interfere with the condition of a
cripple. Do not taunt a man who is in the
hand of God, Nor scowl at him if he errs.
ACKNOWLEDGMENTS

The cost of figures was supported by a grant from


the Art and Drama Therapy Institute, Inc.

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