Radiographic Synopsis Jep

AP projection improper positioning of chest, with upper limb hyperextension during X-ray acquisition, may lead to projection errors that result in pseudo-handlebar appearance of the clavicles in normal individuals. The degree of clavicular angulation is expressed as the index where a is the straight line connecting either end of the clavicle, and b is the distance from the point of greatest deviation of the hook to baseline. The normal mean value of d is 5 in adults and children over 1 year,...

Clavicular Abnormalities

This section summarizes the most common clavicular abnormalities encountered in bone dysplasias and malformation syndromes. Many such abnormalities are similar to those involving other anatomical locations, because they occur as part of the same systemic disorder. Therefore, the significant overlap between this and other chapters in the book is not surprising. There may also be some overlap within the section, owing to the possible co-existence of more than one clavicular defect in the same...

References Lsi

Camera G, Camera A, Gatti R. SPONASTRIME dysplasia report on two siblings with mental retardation. Pediatr Radiol 1993 23 611-4 Cantatore FP, Carrozzo M, Loperfido MC. Mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata. Clin Rheumatol 1991 10 191-5 Carlson DH. Osteopathia striata revisited. J Can Assoc Radiol 1977 28 190-2 Fanconi CI, Giedion A, Prader A. The SPONASTRIME dyspla-sia familial short-limb dwarfism with saddle nose, spinal alterations...

Radiographic Synopsis Cjy

1. Absent 3rd digit simple cleft or central cleft with polysyndactyly and carpo tarsal anomalies or absence of all but the 5th digit monodactylous type isolated split hand foot malformation 2. Ulnar defect absence of fingers 2-5 lobster claw deformity of feet ulnar hypoplasia lobster-claw deformity of feet 3. Hypoplasia aplasia of ulna bilateral aplasia of 3rd finger absent tibiae 4th finger camptodactyly hypoplastic big toes femur dysplasia patellar aplasia cleft hand absent tibia

Slender Tubular Bones

Activity is essential to the normal growth and development of bones. Inactivity from any cause, including neuromuscular disorders and prolonged immobilization or disuse, produces osseous, articular, and soft tissue changes. Osteoporosis, growth disturbances and deformities, fractures, soft tissue atrophy or - less frequently - hypertrophy, heterotopic ossification, cartilage atrophy, and synovitis are examples of pathophysiologic responses to the altered equilibrium between muscle activity and...

References Hov

Bankier A, Danks DM. Thoracic-pelvic dysostosis a 'new' autosomal dominant form. J Med Genet 1983 20 276-9 Barnes ND, Hull D, Symons JS. Thoracic dystrophy. Arch Dis Child 1969 44 11-7 Brown BS. The prenatal ultrasonographic diagnosis of osteo-genesis imperfecta lethalis. J Can Assoc Radiol 1984 35 63-6 Chen CP, Lin SP, Liu FF, Jan SW, Lin SY, Lan CC. Prenatal diagnosis of asphyxiating thoracic dysplasia Jeune syndrome . Am J Perinatol 1996 13 495-8 Giorgi PL, Gabrielli O, Bonifazi V, Catassi...

Associations Aym

Chromosome 18 trisomy syndrome Clavicular hypoplasia-zygomatic arch hypoplasia-micrognathia Cleidocranial dysplasia with parietal foramina Focal dermal hypoplasia syndrome Goltz-Gorlin syndrome Melnick-Needles syndrome osteodysplasty Pseudoarthrosis, congenital Retinoic acid, maternal use

Rib Notching

Notching can occur at the inferior or superior edges of the ribs. Inferior rib notching can be seen in a wide variety of conditions, most commonly reflecting chronic pressure on the rib from an enlarged element of the neurovascular bundle. Given this pathogenetic mechanism, inferior rib notching is encountered much less frequently in young children than in adolescents or adults. Moreover, the notch is outlined by Fig. 2.25. Aortic coarctation in a 1-year-old boy. Observe distinct notching of...

Radiographic Synopsis Jof

LL and AP, weight-bearing projections. Conventional radiography is used to confirm the diagnosis, rule out other causes of rigid flatfoot, guide the surgical treatment, and evaluate residual deformities at follow-up studies. CT scanning and MRI provide, respectively, 3D image reconstruction and visualization of the unossified cartilage. On the AP view, severe heel valgus and forefoot abduction are seen, the navicular bone and remaining tarsal bones being located lateral to the talus. The...

References Goo

Adams FH, Oliver CP. Hereditary deformities in man due to arrested development. J Hered 1945 36 3-7 Bamforth JS, Kaurah P, Byrne J, Ferreira P. Adams Oliver syndrome a family with extreme variability in clinical expression. Am J Med Genet 1994 49 393-6 Bamforth JS. Amniotic band sequence Streeter's hypothesis reexamined. Am J Med Genet 1992 44 280-7 Bonneau D, Roume J, Gonzalez M, Toutain A, Carles D, Marechaud M, Biran-Mucignat V, Amati P, Moraine C. Splenogonadal fusion limb defect syndrome...

Madelung Deformity

Short and dorsolaterally curved radius, tilting of distal ulna, and dorsal subluxation dislocation of ulna The primary event in Madelung deformity is a growth disturbance that involves the radius while sparing the ulna Anton et al. 1938 . The unequal growth of radius and ulna results in dorsal bowing of distal radius, sloping of its distal epiphysis, and wedging of the carpus triangularization of the carpus between deformed radius and protruding ulna, with the lunate at the apex of the wedge....

Brachyproxiphalangy

Familial shortening of the proximal phalanges does not seem to occur in isolation, but only in association with shortening of other bones in the hand, particularly in the context of brachydactyly type C OMIM 113100 Poznanski 1984 . This complex type of brachydactyly encompasses a heterogeneous spectrum of digital anomalies, whose distinctive feature is shortening of the proximal and middle phalanges of the 2nd and 3rd fingers combined with relatively normal distal phalanges. Marked shortening...

Associations Qen

Acrofacial dysostosis, Nager type Agenesis of corpus callosum facial anomalies Robin sequence Aminopterin methotrexate embryopathy Aminopterin-like syndrome without aminopterin Arthritis, chronic juvenile Arthrogryposis multiplex congenita with whistling face C syndrome Opitz trigonocephaly syndrome Campomelic dysplasia Catel-Manzke syndrome Cat-eye syndrome Cerebro-costo-mandibular syndrome Cerebro-oculo-facio-skeletal syndrome COFS syndrome CHARGE association Chondrodysplasia punctata,...

References Rso

Ainsworth SR, Aulicino PL. A survey of patients with Ehlers- Danlos syndrome. Clin Orthop 1993 286 250-6 Bannerman RM, Graf CJ, Upson JF. Ehlers-Danlos syndrome. Br Med J 1967 3 558-9 Beals RK. Homocystinuria. A report of two cases and review of the literature. J Bone Joint Surg Am 1969 51 1564-72 Beighton P, Horan F. Orthopaedic aspects of the Ehlers-Danlos syndrome. J Bone Joint Surg Br 1969a 51 444-53 Beighton P, Horan FT. Surgical aspects of the Ehlers-Danlos syndrome. A survey of 100...

Angelshaped Phalanges

Chondrodysplasia Punctata

Abnormal shape of middle phalanges, reminiscent of the little angels used to decorate Christmas trees This characteristic structural anomaly of the middle phalanges is due to a diaphyseal cuff the wings of the angel surrounding a meta-diaphyseal core the body of the angel , with a cone-shaped epiphysis at the bottom the skirt and a distal pseudoepiphysis located at the top the head . Giedion identified eight types of angel-shaped epiphyses, differing in the appearance of the 'body' empty or...

Associations Tuo

Dyggve-Melchior-Clausen syndrome Isolated hypoplasia of the odontoid Metaphyseal chondrodysplasia, McKusick type Mucopolysaccharidosis Morquio, Hurler Multiple epiphyseal dysplasia Spondylo-epi-metaphyseal dysplasia Strudwick type Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia tarda Spondylometaphyseal dysplasia corner fracture type, Sutcliffe type

Associations Cfv

Dyggve-Melchior-Clausen syndrome Mucopolysaccharidosis IV A Morquio Multiple epiphyseal dysplasia Fairbank Spondyloepiphyseal dysplasia Tricho-rhino-phalangeal syndrome, types 1 and 2 References Allison A, Blumberg BS. Familial osteoarthropathy of the fingers. J Bone Joint Surg Br 1958 40 538-45 Boehme A. Kasuistischer Beitrag zur Thiemannschen Epiphy- senerkrankung. Z Ges Inn Med 1963 18 491-5 De Iturriza JR, Tanner JM. Cone-shaped epiphyses and other minor anomalies in the hands of normal...

Small Acetabular Angle

Hypoplastic Iliac Bones

As already mentioned, horizontal acetabula are seen most commonly in association with hypoplastic iliac bones and small sciatic notches. This pelvic pheno-type is therefore encountered in many of the disorders discussed elsewhere in the chapter, including thanatophoric dysplasia OMIM 187600 , achon- Fig. 4.17. Achondroplasia in a newborn. Note horizontal acetabular roofs, and small, squared iliac bones, with lack of flaring. The greater sciatic notches are short. The ischial and pubic bones are...

Orbital Hypotelorism

Decreased interorbital distance The diagnosis of hypotelorism is made clinically. On inspection, the interpupillary distance and the inner and outer canthal distances can be measured, allowing a meaningful appraisal of eye morphology and position see next section . A short interorbital distance can be a morpho-genetic variant in otherwise normal individuals. Hypotelorism also occurs as a result of premature closure of the metopic suture see Craniosynostosis and in syndromes with midface...

References Hbz

Blank E, Girdany BR. Symmetric bowing of the terminal phalanges of the fifth fingers in a family Kirner's deformity . AJR Am J Roentgenol 1965 93 367-73 Brude E. Pierre Robin sequence and hyperphalangy. A genetic entity Catel Manzke syndrome . Eur J Pediatr 1984 142 222-3 Burke F, Flatt A. Clinodactyly. A review of a series of cases. Hand 1979 11 269-80 Buschang PH, Malina RM. Brachymesophalangia-V in five samples of children a descriptive and methodological study. Am J Phys Anthropol 1980 53...

Short Ribs

Generalized shortening of the ribs leads to a narrow thorax. Given the significant overlap between these two topics, the reader is referred to the section headed Small Thorax in this chapter for a more detailed discussion. A few additional comments are provided here. Shortening may be confined to a single rib or to a few ribs and thus manifest as a focal lesion with no effects on the overall size of the thoracic cage. Such a situation may be due to a developmental defect or to superimposed...

Joint Laxity Joint Hypermobility

Hyperextensible joints, increased range of joint motion The osseous surfaces of a synovial articulation are bound together by a fibrous capsule externally reinforced by a variety of supporting structures tendons, aponeuroses, fasciae, and ligaments and, at some joint sites, by accessory intra-articular ligaments e.g., the cruciate ligaments of the knee . The fibrous capsule represents the outer layer of the articular capsule the inner layer being the synovial membrane and is composed of...

Associations Snr

Amyoplasia congenita disruptive sequence Arthrogryposis, distal, types I and II Arthrogryposis-advanced skeletal maturation-unusual facies Camptodactyly-ichthyosis syndrome syndrome Chondrodysplasia punctata recessive, X-linked dominant Chromosomal abnormalities trisomy 8, trisomy 9, mosaic, 13, trisomy 18, XXXXY, deletion 11q, duplication 4p, duplication 10q, duplication 15q Contractural arachnodactyly, congenital Beals syndrome Dermo-chondro-corneal dystrophy of Fran ois Duchenne muscular...

Radiographic Synopsis Kma

AP with legs in neutral position, and in forced abduction. Conventional radiography has been largely replaced by ultrasonography in early diagnosis of developmental dysplasia of the hip neonatal period . Ultrasound permits a clear demonstration of the cartilaginous portions of the joint, which are not detected by conventional X-rays. Conventional radiography is of value when morphological details of the hip are necessary, for example in cases of suspected or proven malformation disorders. 1....

Postaxial Polydactyly

Extra Digit Hand Postaxial Type

Increased number of digits on the ulnar side of the hand As already mentioned in the previous section, postaxial hexadactyly OMIM 174200 is by far the commonest form of Polydactyly, accounting for about 78 of all Polydactylies. It is often an isolated anomaly, but can also occur in association with several malformation syndromes or with multiple other anomalies that do not clearly fit into well-defined syndromes. Two phenotypically and possibly genetically different forms of postaxial...

References Gmz

Epiphyseal Dysgenesis

Anderson IJ, Goldberg RB, Marion RW, Upholt WB, Tsipouras P. Spondyloepiphyseal dysplasia congenita genetic linkage to type II collagen COL2AI . Am J Hum Genet 1990 46 896-901 Bamforth JS, Hughes I, Lazarus J, John R. Congenital anomalies associated with hypothyroidism. Arch Dis Child 1986 61 608-9 Caffey J. Chondroectodermal dysplasia Ellis-van Creveld syndrome report of three cases. AJR Am J Roentgenol 1952 68 875-81 Harrison CS. Dysplasia epiphysealis capitis femoris. Clin Orthop 1971 80...

References Pdk

Arvystas M, Shprintzen RJ. Craniofacial morphology in Treacher Collins syndrome. Cleft Palate Craniofac J 1991 28 226-30 Bush PG, Williams AJ. Incidence of the Robin Anomalad Pierre Robin syndrome . Br J Plast Surg 1983 36 434-7 Carey JC, Fineman RM, Ziter FA. The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. J Pediatr 1982 101 858-64 Carlson C, Papolos D, Pandita RK, Faedda GL,Veit S, Goldberg R, Shprintzen R, Kucherlapati R, Morrow B. Molecular...

References Hgq

Arn PH, Scherer LR, Haller JA, Pyeritz RE. Outcome of pectus excavatum in patients with Marfan syndrome and in the general population. J Pediatr 1989 115 954-8 Cistulli PA, Sullivan CE. Sleep apnea in Marfan's syndrome increased upper airway collapsibility during sleep. Chest 1995 108 631-5 Donnelly LF, Frush DP, Foss JN, O'Hara SM, Bisset GS.Anterior chest wall frequency of anatomic variations in children. Radiology 1999 212 837-40 Ellis DG. Chest wall deformities in children. Pediatr Ann 1989...

Associations Tvi

sickle cell anemia, spherocytosis, thalassemia Arthrogryposis multiplex congenita Asphyxiating thoracic dysplasia Calcium hydroxyapatite crystal deposition disease Calvarial doughnut lesions-osteoporosis-dentino-genesis imperfecta syndrome Chromosomal trisomy syndromes 13,18,21 Contractural arachnodactyly, congenital Beals syndrome Duchenne muscular dystrophy Epidermolysis bullosa dystrophica Estrogen deficiency postmenopausal Fibrodysplasia ossificans progressiva Fibrogenesis imperfecta...

Radiographic Synopsis Mav

1. Erlenmeyer flask configuration of distal femur thin cortices metaphyseal dysplasia, cranio-meta-physeal dysplasia 2. Dense bones bone-in-bone appearance club-shaped metaphyses transverse metaphyseal bands osteopetrosis 3. Dumbbell appearance of femurs short tubular bones Kniest dysplasia, dyssegmental dysplasia, metatropic dysplasia 4. Undermodeled shafts and metaphyses thin cortices bone rarefaction mucopolysaccharidoses

References Cnt

Berdon WE, Baker DH, Wigger HJ, Blanc WA. The radiologic and pathologic spectrum of the prune belly syndrome. The importance of urethral obstruction in prognosis. Radiol Clin North Am 1977 15 83-92 Dhar S, Anderton JM. Rupture of the symphysis pubis during labor. Clin Orthop 1992 283 252-7 Fraser GR. Our genetical 'load ' a review of some aspects of ge- netical variation.Ann Hum Genet 1962 25 387-415 Hunter AGW, Carpenter BF. Atelosteogenesis I and boomerang dysplasia a question of nosology....

Chapter 6

Alessandro Castriota-Scanderbeg, M.D. Bruno Dallapiccola, M.D. As mentioned in Chapter 5, four constitutive segments of the limb are recognized a root or zono-skeleton a proximal segment or stylopodium humerus femur a medial segment or zeugopodium radius ulna, tibia fibula and a distal part or autopodium hand and foot . Several complex processes are involved in the formation of these segments. Their action is coordinated, but so far little is understood about it. Just like the long bones, the...

Early Ossification of the Femoral Head

In normal children, the ossific nucleus of the femoral head appears between 2 and 8 months of age. Ossification occurs earlier in girls than in boys, since skeletal maturation is more advanced in girls than in boys at all ages. The presence of calcific deposits within the secondary nucleus of the femoral head at birth is rare, being found in asphyxiating thoracic dysplasia and Ellis-van Creveld syndrome. In neonates with asphyxiating thoracic dysplasia Jeune syndrome, OMIM 208500 , premature...

Abnormalities of Orbital Size

It is primarily the eye that directs normal orbital growth. In normal circumstances the eye doubles in volume during the 1st year of life and attains 75 of its adult volume by the end of the 3rd year. The shape and size of the orbital cavity are also influenced by the development of the brain and skull. When the eye is underdeveloped but the brain is normal, the orbital plate of the frontal bone appears hypoplastic and the vertical or cranial part is usually normal. When the brain is...

Associations Kjy

Poland Syndrom

Tibia hemimelia-TPT-polydactyly Cranio-fronto-nasal dysplasia Short rib-polysyndactyly, type 2 Majewski Thumb polydactyly, isolated Fig. 6.62. Thumb polydactyly in a 4-day-old baby girl. There is duplication of the proximal and distal phalanges of the thumb with a slightly broad metacarpal. Absence of syndactyly in this case means the accessory thumb exists as an independent finger. The other hand was unaffected Fig. 6.62. Thumb polydactyly in a 4-day-old baby girl. There is duplication of the...

Small Sinuses

Hypoplasia aplasia or obliteration of sinuses There is considerable variation in both shape and size of the sinonasal cavities among different individuals. There are also differences between left and right in the majority of normal individuals. Although usually present at birth, aeration of the maxillary and ethmoid sinuses may be in such an early stage as to go unnoticed on conventional radiograms in the newborn. Within the 1st year of life all of the paranasal sinuses may appear normally...

Terminal Transverse Defect

Terminal Transverse Limb Defect

Absence of distal portions of the extremities extending across the width of the hand This defect can involve the phalanges aphalangism , the digits adactylia Fig. 6.21 a,b , or the entire hand acheiria Fig. 6.22 . The entire forearm or arm can be missing amelia . Absence of both hand and foot is termed acheiropodia. As stated earlier, the term ectrodactyly literally means abortion ektroma of finger daktylos and is therefore most appropriately used to designate terminal transverse defects....

Radiographic Synopsis Mpj

1. Rudimentary absent middle phalanges of fingers and toes short proximal phalanx of thumb and big toe brachydactyly A1 2. Short, often rhomboid middle phalanx of 2nd finger and 2nd toe radial deviation of 2nd finger brachydactyly A2 3. Short, often rhomboid middle phalanx of 5th finger, with radial deviation brachydactyly A3 4. Short middle phalanx of 2nd and 5th fingers, with or without 5th finger clinodactyly brachydactyly A4 5. Hypoplastic absent middle phalanges of fingers duplicated...

Ivory Epiphyses

Ivory epiphyses are relatively common normal variants, occurring with an incidence ranging from 4 in girls to 8 in boys de Iturizza and Tanner 1969 . They normally occur only in the distal phalanges and in the 5th middle phalanx, and are most common in the 2nd and 5 th distal phalanges Poznanski 1984 . Their structure is one of uniformly sclerotic bone lacking internal trabeculation Fig. 6.49 . It is not uncommon for one such epiphysis to revert to normal before fusion with the shaft is...

Tall Vertebrae

Nevoid Basal Cell Carcinoma Syndrome

Increased vertical dimensions of the vertebral bodies Tall vertebrae are often associated with conditions characterized by severe muscle hypotonia or requiring prolonged recumbency, reflecting diminished compressive forces on the potential longitudinal growth of the vertebral bodies Donaldson et al. 1985 . The resulting increase in the height index i.e., the ratio of superoinferior diameter to anteroposterior diameter is approximately proportional to the degree of inactivity Resnick 1995...

References Gea

Ahrens W, Hiort O, Staedt P, Kirschner T, Marschke C, Kruse K. Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. J Clin Endocr Metab 2001 86 4630-4 Archibald RM, Finby N, De Vito F. Endocrine significance of short metacarpals. J Clin Endocrinol Metabol 1959 19 1312-22 Bianco P, Riminucci M, Majolagbe A, Kuznetsov SA, Collins MT, Mankani MH, Corsi A, Bone HG, Wientroub S, Spiegel AM, Fisher LW, Robey PG. Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic...

References Tvr

Beighton P, Spranger J, Versveld G. Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients. S Afr Med J 1983 64 565-8 Cisarik F, Kozlowski K, Masel J, Sillence D. Variability in kyphomelic dysplasia. Pediatr Radiol 1999 29 551-7 Eggli K, Giudici M, Ramer J, Easterbrook J, Madewell J. Mel-nick-Needles syndrome. Four new cases. Pediatr Radiol 1992 22 257-61 Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM,Whyte MP. Hypophosphatasia...

References Lce

Cormode EJ, Dawson M, Lowry RB. Keutel syndrome clinical report and literature review. Am J Med Genet 1986 24 289-94 Garn SM, Hertzog KP, Poznanski AK, Nagy JM. Metacarpophalangeal length in the evaluation of skeletal malformation. Radiology 1972 105 375-81 Goeminne L,Agneessens A, Kunnen M. Perodactylie of apicale dystrofie brachydactylie door hypofalangie II-V met bifide telefalangie I, in vijf generaties. Tijdschr Geneeskd 1970 9 469-72 Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal...

Campomelic Dysplasia

Achondrogenesis, types I and II Acro-fronto-facio-nasal dysostosis syndrome Aminopterin methotrexate embryopathy Chromosomal deletion syndromes 4p-, 4q-, 5p- Chromosomal duplication syndromes 4p , 9p Chromosomal trisomy syndromes 13,18 Craniosynostosis-radial fibular aplasia-cleft lip Hay-Wells syndrome of ectodermal dysplasia Hyperthermia-induced spectrum of defects Nevoid basal cell carcinoma syndrome Gorlin syndrome Oculo-auriculo-vertebral spectrum Oculo-dento-digital syndrome...

Osteoporosis

Scruvy Radiolucent Line

Osteoporotic bones are qualitatively normal but quantitatively deficient. Since these bones appear rarefied and radiolucent on radiograms, the term 'osteopenia' is often used to refer to 'poverty' of bone Hall and Lenchik 1999 Griscom and Jaramillo 2000 . Radiolucent bones, however, are not seen exclusively in osteoporosis, but also in osteomalacia, hyperparathyroidism, neoplasms, and several other conditions of varying pathogenesis Resnick and Ni-wayama 1995 . Thus, the term 'osteopenia' is...

Ankylosis

Glenohumer

Although ankylosis and synostosis are often used as synonyms,each term implies a distinct mechanism of joint fixation. Synostosis indicates a failure of joint formation, while the true meaning of ankylosis is supervening fixation of a previously normally developed joint. The radiographic and pathological aspects related to the presence of synostosis at specific articular sites are discussed elsewhere in this book. Similarly, congenital disease processes manifesting with multiple synostoses,...

Broad Tubular Bones

Diaphyseal Dysplasia

Several mechanisms can account for broadening of the tubular bones, including defective modeling, cortical hyperostosis, bone marrow hyperplasia or infiltration, and new bone deposition in the periosteum and adjacent soft tissues. As a consequence, broad tubular bones are seen in a wide variety of disorders, both congenital and acquired, including several skeletal dysplasias, metabolic disorders, and hematological diseases. Depending on the underlying etiology, broadening of the long bones is...

References Nop

Bryant DD 3rd, Epps CH Jr. Proximal femoral focal deficiency evaluation and management. Orthopedics 1991 14 775-84 Daentl DL, Smith DW, Scott CI, Hall BD, Gooding CA. Femoral hypoplasia-unusual facies syndrome. J Pediatr 1975 86 107-11 Gillespie R, Torode IP. Classification and management of congenital abnormalities of the femur. J Bone Joint Surg Br 1983 65 557-68 Gleiser S, Weaver DD, Escobar V, Nichols G, Escobedo M. Femoral hypoplasia-unusual facies syndrome, from another viewpoint. Eur J...

HypoplasiaAplasia Irregularities Fragmentation of the Femoral Head

Perthes Histologic Section Femoral Head

Small absent femoral heads Perthes-like changes of the femoral capital epiphysis Hypoplasia of the capital femoral epiphyses, or their absence at an age at which they are normally present, may merely reflect a delay in skeletal maturation, a subject discussed elsewhere in this book. Asymmetrical development of the femoral epiphyses is common in normal infants and resolves spontaneously with further growth. However, a very small ossification center may underline a disturbance of epiphyseal...

Premature Degenerative Joint Disease

Spondyloepiphyseal Dysplasia Congenita

Degenerative joint disease is the most common joint disease and its frequency is higher in older individu-als.Yet this disease cannot be considered as an invariable consequence of aging Alexander 1990 Oddis 1996 . This section summarizes the situations in which degenerative osteoarthritis becomes clinically evident in young adults well before the 5th and 6th decades of life, after which an age-related predisposition to degenerative joint disease appears to increase exponentially Resnick and...