(Dysostosismalformation of bones either singly or in combinations) (Osteochondrodystrophiesabnormalities of cartilage and bone)
(Osteolysisdisorders associated with multifocal pathologic resorption of bone) (Skeletal abnormalities associated with chromosomal disorders) (disorders) 10,000 1 3.. 20. (membranous ossification) :clavicle, mandible (cartilaginous ossification) :. 48,6. 10. primary ossification center diaphysis, secondary ossification center epiphysis. secondary ossification center (hypoechoic). : 7 : mesenchymal cell (condensation). 8 :limb buds clavicle, mandible. 9 :,,. 10 :,,, 11 :, 14 :. epiphysis calcification. distal femoral epiphysis : 32 35 proximal humoral epiphysis :40 proximal tibial epiphysis :34 37
(Acheiria): (absence of hands) (Apodia): (absence of feet) (Acromelia): (shortening of hands and feet), (Adactly): (absence of fingers or, and toes), (Amelia): (absence of an extremity) (Barachydactyly): (abnormally short fingers) (Camptomelia): (bent limb) (Clinodactyly): (deviation of the finger) (Diastrophic): (distorted) (Ectrodactyly) : (split hand) (Equinus) : (extension of the foot) (Hemimelia): (absence of the distal limb below the elbow or knee) (Oligodactly): (partial loss of the fingers) (Phocomelia):, (deficient development of the middle segments with normal development of the proximal and distal segments) (Polydactyly) 5..
(Preaxial) :, (extra digit on radial or tibial side) (Postaxial) :, (extra digit on ulnar or fibular side), (Syndactyly):, (fused digits)
(Valgus) : (bent outwards) (Varus) : (bent inwards). (Achondrogenisis type 2) COL2A1 12q13.11 (Hypochondrogenesis) COL2A1 12q13.11 X (SED congenita) COL2A1 12q13.11 X (Late onset SED) COL2A1 12q13.11 Stickler`s dysplasia COL2A1 12q13.11 (Thanatophoric dysplasia) FGFR3 4p16.3 (Achondroplasia) FGFR3 4p16.3
. (Length) (Width) (Structure) (Texture),, (Cranial vault) (ossification) (Facial profile), (Ribslength, fracture)
(fetal movement),,, : (ossified diaphysis).. (exclude epiphyseal cartilages). femure.
* (Femur) (included in routine measurement).. (humerus), (tibia), (fibula), (ulna), (radius). * (tibia) (fibula),. * (Radius) (Ulna).
Rhizomelia : (achondroplasia) heterozygous type Mesomelia : Mesomelic dysplasia(langer, Reinhardt, and Robinow types) Micromelia:, asphyxiating thoracic dystrophy(severe form) Osteogenesis imperfecta 2 Achondrogenesis Campomelic dysplasia Shortrib polydactyly syndrome
Chondroectodermal dysplasia Diastropic dysplasia (Acromelia) Ellisvan Creveld syndrome(chondroectodermal dysplasia) (Bowing) Campomelic dysplasia Thanatophoric dwarfism Osteogenesis Imperfecta Achondrogenesis Hypophosphatsia (Osteogenesis imperfecta) (Hypophosphatasia) (Achondrogenesis) : :.
Hypophosphatasia Achondrogenesis Osteogenesis imperfecta Compressible and poorly echogenic calvarium (diffuse hypomineralization) Poor calvarial ossification ; type I Type IIA, III ; decrease bone echogenecity Compressible skull :four chamber view level. Asphyxiating thoracic dysplasia(june) Chondroectodermal dysplasia Campomelic dysplasia Hypophosphatasia Achondrogenesis Osteogenesis imperfecta(type II) Kniest dysplasia Shortrib polydactyly syndrome Tanatophoric dysplasia Homozygous achondroplasia thanatophoric dysplasia.. :,,,,.
Heart Shortrib polydactyly syndrome II Kidney disease Hydrocephalus Cleft palate Congenital cataracts Chondroectodermal dysplasia Campomelic dysplasia Shortrib polydatyly syndrome I, II Asphyxiating thoracic dysplasia Chondroectodermal dysplasia Thanatophoric dysplasia Achondroplasia Achondrogenesis Osteogenesis imperfecta II Campomelic dysplasia Campomelic dysplasia Asphyxiating thoracic dysplasia Shortrib polydatyly syndrome II Kniest dysplasia Diastrophic dysplasia Spondyloepiphyseal dysplasia congenita Chondrodysplasia punctata Polydactyly Shortrib polydactyly syndrome. I. II (100%) Postaxial Aasphyxiating thoracic dysplasia (15%) Chondroectodermal dysplasia Preaxial Shortrib polydactyly syndrome II Chondroectodermal dysplasia. Thanatophoric dysplasia(0.240.6 in 10,000) Achondrogenisis(0.090.28 in 10,000) Achondroplasia(0.370.64 in 10,000) Osteogenesis imperfecta II.(0.180.64 in 10,000) :0.27~0.4/10,000( ) ( 35 ).
type 1, (85%) : (clover leaf). (telephone receiver), Autosomal recessive, type 2(15%) : type 1 type1. (25%) FGFR3(fibroblast growth factor receptor <Tavormina,1995> *Achondroplasia FGFR3..(DNA analysis for FGFR3). 5.F: femur, T.F: tibia and fibula
Severe rhizomelic micromelia Cloverleaf skull in AR type Bowed long bones in sporadic type Flattened vertebral bodies(platyspondyly) Forehead prominent, saddle nose, ventriculomegaly frequently present Polyhydramniosis(70%) Narrow thorax No hypomineralization of bone achondrogenesis(mineralization ) Encephalocele :. (X ). :1/40,000~50,000( ).,,,,,. Type I(ParentiFraccaro) :20%,
, Type II (LangerSaldino) :80% :9., micromelia.(two vertebral ossification centers)., type., (heterozygous type). (thanatophoric dysplasia ).. (narrow thorax) : 6% I AD No Isolate in 5% Normal Good IIA Sporadic>>AD Severe Innumerable Decreased Fatal IIB AR Moderate femur only Numerous Normal Fatal IIC AR Moderate of all extremities Numerous Normal Fatal III AR Moderate femur only Numerrous Decreased Fatal IV AD mild Occasional, isolated Normal Good type. (type II)
callus. (supervisualization) (type II) :.
. callus. : 3 4 I (SaldinoNoonan) : (mataphysis) II (Majewski) : /, III (VermaNaumoff) : IV (BeemerLanger) : (midline cleft),,, Micromelia with metaphyseal spicules and spurs Short rib with narrow thorax(horizontal hypoplastic rib) Polydactyly; postaxial in type I, preand post in type II Frequent cardiovascular or GU anomalies :1/110,000 : PEX 7 gene (6q2224 ) 4p16,Xq28 peroxisome (by CVS) plasminogen
phytanic oxidation ; ( mineralization ) immunobolt of peroxisomal 3oxoacylCoA thiolase (midface depression) epiphysis calcification :1/150,000 ( ):17 :. / / /. club foot (2548%) : 1 24.. Apert syndrome Triploidy HoltOram syndrome Smith Lemli Opitz syndrome (2,3 ) Carpenter syndrome 10 1
(hypomineralization) falx.. :1/26,000 : 3 (mutation in the fibroblast growth factor receptor type 3gene) 80% (spontaneous mutation), 20% 3rd percentile 10th percentile : (Amniocentesis) (short limb) (lumbar lordosis).(macrocephaly with frontal bossing) 129cm( ), 122cm( ) (intelligence and life expectancy normal) cervicomedullary compression/ /, /
,.., 8 (discrepancy).
1/1,000. coronal view,.. KlippelFeil. Caudal regression syndrome.,. caudal end
:160,000 100 150 ( sirenomelia 8~15% ) :. (sacral agenesis). Potter type :. :.(1/40,000) 3. : (primitive streak),.,, (18%) / / /. ( )
Thanatophoric dwarfism clover leaf or telephone receiver shaped bones No hypomineralization Achondrogenesis retarded ossification center(two VB) Normal calvarium(80%) Osteogenesis Imperfecta compressible skull multiple fractures thick short long bone
Achondroplasia (homogenous) heterogenous.,?.,.,... club foot. (2) (tibia and fibula) club foot. club foot. : club foot. Terry J, DuBose, Fetal sonography. 1986, W.B. Saunders company Fleischer, Sonography in obstetrics and gynecology, 5th Ed, Appleton and Lange, 1996 Structural fetal abnormalities Roger C. Saunders 1996, MosbyYear book, Inc Peter W. Callen. Ultrasonography in Obstetrics and Gynecology. 3rd Edition, 1994, Saunders company Bianchi DW, Cromblehome TM, D`Alton ME. Fetology.Diagnosis and management of the fetal patient. McGrawHill com. 2000 Peter T. Textbook of fetal abnormalities. Churchill Livingstone,2000