Osteogenesis imperfecta (OI)

Figure 17-1. The typical microscopic changes of OI can be seen in a section of a long
bone of a severely affected child. The bone cortex is thin and porous. The bone
trabeculae are thin, delicate, and widely separated. Many osteoblasts and osteocytes
are present, but the formation and organization of osteoid is deficient. There is less
bone tissue than normal and most of it is woven or non-lamellar bone with collagen
fibers of small size and random distribution. The woven bone has an increase in
basophilic ground substance (shown by blue staining in H. &E. sections):
(Courtesy of : Dr Robert C. Mellors). Pg 958
Marfan syndrome
Figure 17-2. Marfan syndrome. Pg 959
Figure 17- 3. Marfan syndrome showing disproportionately long and thin extremities.
Pg 959
Figure 17-4. Intraoral photograph showing high arched palatal vault as well as
malocclusion of maxilla. Pg 960
Anchndrogenesis
Figure 17-5. An infant with achondrogenesis type II. Note the disproportionately large
head, large and prominent forehead, flat facial plane, flat nasal bridge, small nose with
severely anteverted nostrils, micrognathia, extremely short neck, short and flared
thorax, protuberant abdomen, and extremely short upper extremities. Pg 961
Fibrous dysplasia
Fig 17-9. Fibrous dysplasia of the mandible in a girl of 16 years. Pg 976
McCune-Albright syndrome
Fig 17-12. Caf -au-lait pigmentation of skin. Pg 978
Pierre Robin malformation
Fig 17-17. Pierre Robin malformation. U- and V-shaped cleft palates. Pg 988
Apert syndrome
Fig 17-18 A and B. Apert syndrome. An infant with Apert syndrome is shown. Note
the characteristic ocular hypertelorism, down-slanting palpebral fissures, proptotic
eyes, horizontal groove above the supraorbital ridge, break of the continuity of
eyebrows, depressed nasal bridge, and short wide nose with bulbous tip.
(Courtesy of: Dr Harold Chen). Pg 990

Fig 17-19: Apert syndrome. Note the mitten appearance of the hands with syndactyly
involving the second, third, fourth, and fifth fingers. This patient also has
characteristic concave palms, hitchhiker posture (radial deviation) of short broad
thumbs, and contiguous nailbeds (synonychia). Pg 990
(Courtesy of: Dr Harold Chen)
Fig 17-20. Apert syndrome. Note osseous syndactyly involving the second, third,
fourth, and fifth fingers; multiple synostosis involving distal phalanges and proximal
fourth and fifth metacarpals; symphalangism of interphalangeal joints; shortening and
radial deviation of distal phalanx; and delta-shaped deformity of proximal phalanx of
the thumbs. Pg 990
Ellis-van Creveld syndrome
Fig 17-23. Ellis-van Creveld syndrome. Natal teeth and lip tie. Pg 994
Down syndrome
Fig 17-27 A. Down syndrome. Pictured is a G-banded karyotype showing trisomy 21
of isochromosome arm 21q type [46,XY,i(21)(q10)]. Pg 998
(Courtesy of: Dr Harold Chen)
Fig 17-27 B. Frontal view of a patient with Down syndrome. Pg 998
Pagets disease
Fig 17-30. Pagets disease: Note the enlargement on the right maxilla. The patient was
unable to use his denture. Pg 1003
Osteitis deformans
Figure 17-33. This photomicrograph taken from a bone biopsy from a patient with
PDB shows several bone spicules in a highly vascularized connective tissue stroma.
These areas of bone formation alternate with areas of bone resorption characterized by
the presence of osteoclasts. Typically, the osteoclasts are seen inside of Howship
lacunae. Pg 1006

Figure 17-34. This is a higher magnification of the previous microscopy. Arrow A

points to osteoclasts in Howship lacunae and arrow B points to osteoblasts in the
process of bone formation. Pg 1006

Figure 17-35. This is another photomicrograph taken from a bone biopsy from a
patient with PDB from a mostly radiopaque area. Note the apposition lines and

the reversal (resorption) lines. The combination of these two lines give this biopsy
a mosaic appearance. Pg 1007