(A) Sloping metaphyses, oval transradiant proximal femora and a narrow thorax with short ribs. • Intraosseous cysts Radiographs in a newborn with metatropic dysplasia. Vaginal anomalies are abnormal structures that are formed (or not formed) during the prenatal development of the female reproductive system and are rare congenital defects that result in an abnormal or absent vagina. [ 9 0 R] This case is reported because of the unusual association of dextrocardia with atrial septal aneurysm and skeletal anomalies. Clinical presentation • ‘Mitten’ or ‘sock’ deformities: these are due to syndactyly (fused digits) of the hands and feet <> RADIOLOGICAL FEATURES Symmetrical stenosis or atresia of the external auditory meati maxillary hypoplasia mandibular hypoplasia hypoplastic paranasal sinuses Download Free PDF. Achondrogenesis The cells of the skull and face are vulnerable targets for substances called teratogens, which interfere with the baby’s … The MR image demonstrates dural ectasia with a widened spinal canal. The radiological identification of syndromes, dwarfs and dysplasias is a difficult task, because there are so many findings to consider and so many syndromes to remember that the problem is overwhelming.  Dysplasias: abnormalities of bone ± cartilage growth 3. (B) The medial tibial plateau is depressed and the adjacent femoral condyle enlarged. Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Dr. Gobardhan Thapa MD Radiodiagnosis Resident, NAMS Bir hospital, Kathmandu Nepal Congenital skeletal anomalies 2. THANATOPHORIC DYSPLASIA (GROUP 1) (B) Thorax: long trunk and small chest. (A) Radiograph of the pelvis showing hypoplastic pelvic wings (more pronounced on the right side) and a small iliac horn on the right ilium. <>/XObject<>/ProcSet[/PDF/Text/ImageB/ImageC/ImageI] >>/MediaBox[ 0 0 720 540] /Contents 4 0 R/Group<>/Tabs/S>> Radiograph of the hand. • Short tubular bones with marked metaphyseal widening (‘dumb-bell’) platyspondyly relatively large intervertebral discs flat acetabular roofs short iliac bones short ribs with anterior widening hypoplastic odontoid process Craniofacial abnormalities (e.g. Platyspondyly is shown, resulting in H-shaped vertebral bodies. Apert’s syndrome Radiological features There is bilateral coxa vara, the metaphyses are splayed and irregular and there is lateral bowing of the femora. Classifying limb deficiencies in the specific subtypes is important both clinically and for the purposes of public health surveillance, as the different types tend to differ in their pathogenesis, etiology and associations with other congenital anomalies … Track any congenital anomalies and/or syndromes occurring with hypospadias (expect ~20% of cases). • Conditions referenced elsewhere • Mesodermal dysplasia (calvarial defects) (C) Pelvis: short iliac wings, narrow sciatic notches, irregular acetabular roofs, and halberd (hunting ax)-shaped with trumpet-shaped metaphyses. • Rib notching Note also bony fusion of the fifth metacarpal digit and the metacarpal of the extra digit (bony syndactyly).©35, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (GROUP 8), Grainger & Allisons Diagnostic Radiology Essentials Expert Consu, Radiographic musculoskeletal features of neurofibromatosis. S. Journals. The musculoskeletal system … �� � } !1AQa"q2���#B��R��$3br� HYPOCHONDROPLASIA (GROUP 1) (A) Typical shortening of fourth metacarpals. (D) Upper extremities: flared proximal humeral and distal radial and ulnar metaphyses shortened long bones. Radiological features (B) Mild kyphosis, posterior scalloping of the vertebral bodies, ‘bullet-shaped’ vertebral bodies and short pedicles with associated spinal stenosis. Report and track proportion of cases among live births, stillbirths and pregnancy terminations. 5.10 In contrast, minor congenital anomalies… Turner’s syndrome. 12 0 obj (A) Apert’s syndrome. (B) Horizontal acetabular roofs and pronounced medial spurs, less pronounced laterally (‘trident’ appearance). ���� JFIF ` ` �� ZExif II* J Q Q � Q � �� �� �� C Learn about the veterinary topic of Congenital and Inherited Anomalies of the Musculoskeletal System in Multiple Species. CLINICAL PRESENTATION x��UMo�@�#���De=� UUi촕zH�ԃ����dC�PG���b;Ɗ�������G�@ �T Report and track proportion of cases among live births, stillbirths and pregnancy terminations. endobj The MURCS syndrome is a very rare complex association of mullerian, renal tract and cervicothoracicsomite anomalies. READ PAPER.  ‘Trident hand’: the fingers are all the same length and diverge into 2 pairs METATROPIC DYSPLASIA (GROUP 3) Congenital posterior arch defects of the Atlas. A narrowed interpedicular distance at L5. Thanatophoric dwarfism. The distal fibula is dysplastic and bowed.©35,©34 • Metaphyseal flaring irregular widened growth plates (most marked at the hips) increased density and unevenness of the metaphyses (particularly the upper femora and around the knees) large femoral capital epiphyses coxa vara femoral bowing anterior cupping of the ribs normal spine endstream )-,3:J>36F7,-@WAFLNRSR2>ZaZP`JQRO�� C&&O5-5OOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOO�� k j" �� • Short ribs in infancy short iliac wings ‘trident’ appearance – the pelvis becomes more normal in childhood premature ossification of the femoral capital epiphyses laterally sloping proximal tibial metaphysis exostosis of the medial upper tibial shaft carpal fusions cone-shaped epiphyses (middle phalanges) polydactyly of the hands and feet Autosomal dominant ear deformities deafness downslanting eyes lateral coloboma of the lower eyelid hypoplastic malar bone cleft palate endobj • Posterior scalloping of the vertebral bodies (dural ectasia) Asphyxiating thoracic dystrophy. By Fanni Rebeka Erős and Artúr Beke.  Group 31 (disorganized development of cartilagenous and fibrous skeletal components) • Aplasia/hypoplasia of the sphenoid wings (‘bare’ orbit) • Madelung deformity: a reduced angle between the distal radial and ulnar metaphyses European Journal of Radiology 40 (2001) 168–183 Congenital skeletal abnormalities: an introduction to the radiological semiology Filip M. Vanhoenacker a,*, Wim Van Hul b, Jan Gielen a, Arthur M. De … Definitions VII Classification - Groups Q00-Q07 Congenital malformations of the nervous system Q10-Q18 Congenital malformations of eye, ear, face and neck Q20-Q28 Congenital malformations of the circulatory system Q30-Q34 Congenital malformations of the respiratory system Q35-Q37 Cleft lip and cleft palate Q38-Q45 Other congenital malformations of the digestive system • Patients have a classical form of ovarian dysgenesis (with streak ovaries and a small uterus) a 25% incidence of associated ovarian tumours such as a dysgerminoma (occurring up to the age of 20 years) RADIOLOGICAL FEATURES Osteo-onychodysostosis (nail-patella syndrome, Fong syndrome) • No normal widening is demonstrated in the interpedicular distance within the lumbar spine (travelling caudally) short and relatively broad long bones elongation of the distal fibula and ulnar styloid process variable brachydactyly ��`M�Z*�w�[/ N�D�_��]]q4�HtP��q$F1�r#�c�9�rV��/��~��єm�E��]�d��eӮ�e��aŏ8}�=�͕����HP{͊ٔW�'q��b�8��C���V�Rۭ�>��l V���R��͕��M�Wͱ"/�4����I�:�@yr��T�_��k�_�r�LI��! • The development of dwarfism changes over time – the trunk gradually shortens relative to the limbs (due to the developing kyphoscoliosis) (B) The medial tibial plateau is depressed and the adjacent femoral condyle enlarged.† Progressive carpal and tarsal fusions progressive ankylosis of the phalangeal joints dislocated radial heads progressive fusion within the cervical spine (commonly C5/C6) progressive fusion of the large joints hypoplasia of the glenoid fossae Once a diagnosis of a lethal condition is established, and if the pregnancy is beyond … The plain radiographs show an extra digit on the ulnar side of the right hand. (C) A cystic lesion (arrow) in the tibia at the prefracture stage. <> • A decreasing interpedicular distance within the lumbar spine (travelling caudally) short vertebral pedicles posterior vertebral body scalloping flat acetabular roofs short ribs and short wide tubular bones a large skull vault and a small foramen magnum  ‘Cloverleaf skull’: this is due to lateral temporal bulging • Macrocrania (A) Radiograph of the pelvis showing hypoplastic pelvic wings (more pronounced on the right side) and a small iliac horn on the right ilium. • Autosomal dominant short stature cleft palate myopia maxillary hypoplasia thoracic kyphosis and lumbar lordosis barrel-shaped chest endocardial cushion defects and intra- and extracardiac shunts) duodenal atresia and stenosis Hirschsprung’s disease anorectal anomalies • Severe short-limbed dwarfism ASPHYXIATING THORACIC DYSPLASIA (JEUNE’S) (GROUP 4), Small thorax with short ribs (horizontally orientated), Asphyxiating thoracic dystrophy. Turner’s syndrome. A cloverleaf skull is present. appendicular skeletal anomalies in t hirty-one calves. endobj Femora are short with marked expansion, irregular ossification and some sclerosis of the metaphyses. endocardial cushion defects and intra- and extracardiac shunts) duodenal atresia and stenosis Hirschsprung’s disease anorectal anomalies, Short stature cubitus valgus webbed neck widely spaced nipples lymphoedema, • Patients have a classical form of ovarian dysgenesis (with streak ovaries and a small uterus) a 25% incidence of associated ovarian tumours such as a dysgerminoma (occurring up to the age of 20 years), A short 4th metacarpal flattening of the medial tibial condyle with a transitory exostosis beaked vertebral bodies osteoporosis scoliosis coarctation of the aorta increased occurrence of urinary tract anomalies (e.g. RADIOLOGICAL FEATURES Musculoskeletal Disorders Part 8 Congenital skeletal malformations: Talipes (Clubfoot), Congenital Hip Dislocation. By Shiori Nakano, Haruyuki Makishima and Shigehito Yamada. • Craniosynostosis: premature fusion of the skull sutures and facial bones }�D�1��K����z,�T�u����%���}x����,I /����VMՑ�{O�:$ѹ���r�rm�j�*����ѥ�2�� �ݖюo�3���ü�)��(ݵ��w��i)��E��d �%�\�cq�)����E% �i�]����P��`©c��tF��� �N_���]���b�x���9�=�ȏ�|^��� �?�� endobj Major structural anomalies are the conditions that account for most of the deaths, morbidity and disability related to congenital anomalies (see Box 1.1 for a list of selected external and internal major congenital anomalies). • Focal gigantism (soft tissue overgrowth or plexiform neurofibroma) endobj Minor CPSA in non … 1 0 obj Progressive fusion of the cervical spine is a recognized feature of this condition.©35 • Fibrous cortical defects (multiple and large) Neurosurg Clin N Am 18 (2007) 463–478 Congenital Anomalies of the Cervical Spine Paul Klimo, Jr, MD, MPH, Maj, USAFa,*, Ganesh Rao, MDb, Douglas Brockmeyer, MDc a 88th SGOS/SGCXN, 4881 Sugar … CHROMOSOMAL DISORDERS Log In or Register to continue endobj Epiphyses are large and rounded. Postaxial polydactyly in a patient with chondroectodermal dysplasia (Ellis-van Creveld syndrome). a horseshoe kidney) delayed skeletal maturation, • Madelung deformity: a reduced angle between the distal radial and ulnar metaphyses, Autosomal dominant multiple neurofibromas and schwannomas axillary freckling, café au lait spots and molluscum fibrosum, • Up to 85% of patients with neurofibromatosis manifest a musculoskeletal abnormality, • Focal gigantism (soft tissue overgrowth or plexiform neurofibroma), • Aplasia/hypoplasia of the sphenoid wings (‘bare’ orbit), • Hypoplasia of the posterosuperior orbital wall (pulsatile exophthalmos), • Mesodermal dysplasia (calvarial defects), • Neuromas ± fibromas (with enlarged cranial foramina), • Posterior scalloping of the vertebral bodies (dural ectasia), • Dumb-bell neurofibromas/lateral meningoceles, • Pseudoarthroses of the tibia, fibula, or clavicle, • Fibrous cortical defects (multiple and large), • This results from defective endochondral bone formation, • Limb shortening: rhizomelic (proximal) mesomelic (medial) acromelic (distal), • Autosomal dominant short limbs and trunk narrowed thorax with respiratory distress in infancy bowed legs lumbar lordosis prominent forehead with a depressed nasal bridge hydrocephalus, brainstem and spinal cord compression, • A decreasing interpedicular distance within the lumbar spine (travelling caudally) short vertebral pedicles posterior vertebral body scalloping flat acetabular roofs short ribs and short wide tubular bones a large skull vault and a small foramen magnum, ‘Bullet-shaped’ vertebral bodies: with an antero-inferior anterior beak, ‘Tombstone’ appearance: squared small iliac wings with a small sciatic notch, ‘Champagne glass’ pelvis: the pelvic inlet resembles a champagne glass, ‘Chevron’ deformity: V-shaped growth plate notches, ‘Trident hand’: the fingers are all the same length and diverge into 2 pairs, This is a fatal autosomal recessive dwarfism where the abnormalities are similar to those seen in achondroplasia (but are much more severe), • Abnormalities include: severe short limb dwarfism unossified vertebral bodies a large head with normal or reduced ossification, • Type II: less severe it is caused by type II collagen abnormalities leading to abnormal bone and cartilage formation, • This is also known as ‘achondroplasia tarda’ with milder features than those seen with achondroplasia, • Autosomal dominant variable short stature and a prominent forehead, • No normal widening is demonstrated in the interpedicular distance within the lumbar spine (travelling caudally) short and relatively broad long bones elongation of the distal fibula and ulnar styloid process variable brachydactyly, • Sporadic, autosomal dominant mutation this is the most common lethal neonatal skeletal dysplasia short markedly curved limbs respiratory distress due to a (small thoracic cage), • Short ribs with wide costochondral junctions severe platyspondyly horizontal acetabular roofs with medial spikes small sacroiliac notches marked shortness and bowing of the long bones irregular metaphyses short broad tubular bones in the hands and feet small scapulae, ‘Telephone handle’ appearance of the long bones: this is due to metaphyseal flaring, ‘Cloverleaf skull’: this is due to lateral temporal bulging, • Autosomal recessive (often lethal) respiratory problems with a long narrow thorax short hands and feet nephronophthisis in later-life survivors, • Small thorax with short ribs (horizontally orientated) widened costochondral junctions high clavicles short iliac bones horizontal acetabula with medial and lateral ‘spurs’ (‘trident’ appearance) ‘wineglass’ pelvis premature appearance of the proximal femoral ossification centres cone-shaped phalangeal epiphyses may have polydactyly, • The development of dwarfism changes over time – the trunk gradually shortens relative to the limbs (due to the developing kyphoscoliosis), • Variable inheritance (autosomal dominant or recessive) short limbs relatively narrow chest small appendage in the coccygeal region (tail) progressive kyphoscoliosis, • Short tubular bones with marked metaphyseal widening (‘dumb-bell’) platyspondyly relatively large intervertebral discs flat acetabular roofs short iliac bones short ribs with anterior widening hypoplastic odontoid process, • Schmid type: more common mild predominantly involves the lower limbs, • Jansen type: less common more severe symmetrical involvement of all tubular bones, • Autosomal dominant short limbs, short stature, presenting in early childhood genu varum (bow legs), • Metaphyseal flaring irregular widened growth plates (most marked at the hips) increased density and unevenness of the metaphyses (particularly the upper femora and around the knees) large femoral capital epiphyses coxa vara femoral bowing anterior cupping of the ribs normal spine, • Autosomal recessive short stature short limbs (more marked distally) polydactyly hypoplasia of the nails and teeth ectodermal dysplasia with sparse hair congenital cardiac defects (e.g. Progressive fusion of the cervical spine is a recognized feature of this condition.©35, This results from defective endochondral bone formation, A decreasing interpedicular distance within the lumbar spine (travelling caudally), Achondroplasia in a neonate. (B) Schmid type. A cloverleaf skull is present. Tags: Grainger & Allisons Diagnostic Radiology Essentials Expert Consu <> DEFINITION 5.10. Some abnormalities of the skeletal system are rare but severe, and some can be treated. <> endobj (A) Narrow thorax and short ribs. Thanatophoric dwarfism. • Autosomal dominant short limbs, short stature, presenting in early childhood genu varum (bow legs) Autosomal dominant multiple neurofibromas and schwannomas axillary freckling, café au lait spots and molluscum fibrosum “Mitten” polysyndactyly of soft tissues and bones. Neurofibromatosis %PDF-1.5 DEFINITION Congenital Fetal Anomalies and the Role of Prenatal Ultrasound. (D) Upper extremities: flared proximal humeral and distal radial and ulnar metaphyses, Metaphyseal chondrodysplasia (A) Jansen type. Epiphyses are large and rounded. �� � w !1AQaq"2�B���� #3R�br� 7 0 obj Congenital skeletal anomalies – Enchondromatoses (± haemangiomas) (Section 5 Chapter 5, Benign bone tumours: (En)chondroma) 9 0 obj brachycephaly, microcephaly, hypertelorism and relatively small facial bones) <> Clinical presentation Fetal Central Nervous System … RADIOLOGICAL FEATURES DYSOTOSES (LOCALIZED DISORDERS WITH PREDOMINANT CRANIAL AND FACIAL INVOLVEMENT) CLINICAL PRESENTATION ACHONDROPLASIA (GROUP 1) • These are classified into 3 groups (A–C) (C) Pelvis: short iliac wings, narrow sciatic notches, irregular acetabular roofs, and halberd (hunting ax)-shaped with trumpet-shaped metaphyses. The distal fibula is dysplastic and bowed.©35,©34, (A) Apert’s syndrome. Radiographic musculoskeletal features of neurofibromatosis Clinical presentation (B) Thorax: long trunk and small chest. • Pseudoarthroses of the tibia, fibula, or clavicle *  Osteodystrophies: abnormalities of bone ± cartilage texture Skull A short summary of this paper. • Up to 85% of patients with neurofibromatosis manifest a musculoskeletal abnormality RADIOLOGICAL FEATURES  Group 25 (dysplasia with increased bone density) DEVELOPMENTAL SKELETAL ANOMALIES • Sporadic, autosomal dominant mutation this is the most common lethal neonatal skeletal dysplasia short markedly curved limbs respiratory distress due to a (small thoracic cage) • Limb shortening: rhizomelic (proximal) mesomelic (medial) acromelic (distal) *, ELLIS–VAN CREVELD (CHONDROECTODERMAL DYSPLASIA) (GROUP 4), Postaxial polydactyly in a patient with chondroectodermal dysplasia (Ellis-van Creveld syndrome). Musculoskeletal system, Arteries / Aorta, Anatomy, Arteriovenous malformations, Developmental disease, Fetus DOI: 10.1594/ecr2015/C-2614 Any information contained in this pdf file is automatically … endobj • Neurofibrosarcomas • Short ribs with wide costochondral junctions severe platyspondyly horizontal acetabular roofs with medial spikes small sacroiliac notches marked shortness and bowing of the long bones irregular metaphyses short broad tubular bones in the hands and feet small scapulae Radiological features Only gold members can continue reading. brachycephaly, microcephaly, hypertelorism and relatively small facial bones), The iliac wings are flared with relatively horizontal acetabulae frequently there are 11 pairs of gracile ribs there are often two ossification centres within the manubrium sterni (normally only one) atlantoaxial subluxation and instability with hypoplasia of the odontoid process (which is frequently a cause of myelopathy) generalized joint laxity relatively tall vertebral bodies short hands with clinodactyly of the little finger due to a hypoplastic middle phalanx, • Associations: congenital heart lesions (e.g. ' .)10. endobj Gastrointestinal anomalies in only 4% of cases taking into account that one case may have more than one affected system. Congenital skeletal anomalies. Radiological features DEFINITION (B) Horizontal acetabular roofs and pronounced medial spurs, less pronounced laterally (‘trident’ appearance). • They are due to altered blastogenesis occurring during the 1st 6 weeks of life previously normal bones will remain so (unlike an osteochondrodysplasia) more than 1 bone may be involved Note also bony fusion of the fifth metacarpal digit and the metacarpal of the extra digit (bony syndactyly).©35 Short ribs with wide costochondral junctions. %&'()*456789:CDEFGHIJSTUVWXYZcdefghijstuvwxyz��������������������������������������������������������������������������� ELLIS–VAN CREVELD (CHONDROECTODERMAL DYSPLASIA) (GROUP 4) Related The bones are short and bowed. Overgrowth of the distal fibula in hypochondroplasia.† (A) Spine: dense vertebral bodies and short ribs with anterior splaying. CLINICAL PRESENTATION 5 0 obj Overgrowth of the distal fibula in hypochondroplasia. In genetic/chromosomal anomalies, cases of … • Hypoplasia of the posterosuperior orbital wall (pulsatile exophthalmos) Skeletal anomalies are seen in 1.6–55 % of cases of esophageal atresia or tracheoesophageal fistula, usually in the context of the VACTERL association, and may be divided into limb and spinal anomalies… (B) Lateral knee radiograph. Ribs Type 1 neurofibromatosis with a short angular thoracolumbar curve as seen on an anteroposterior radiograph (A) and coronal T2-weighted MR image (B). Objective of the presentation • Introduction to some of the basic definitions, terminologies related to anomalies … Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964--1977 to 30.4/10,000 births in Scotland from 1964--1968. SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (GROUP 8) Metaphyseal chondrodysplasia (A) Jansen type. Other congenital anomalies are the urogenital system 5%, Genetic disorders 7.5%, cardiovascular system 7.5% and skeletal system with 8.0% occurrence. The iliac wings are flared with relatively horizontal acetabulae frequently there are 11 pairs of gracile ribs there are often two ossification centres within the manubrium sterni (normally only one) atlantoaxial subluxation and instability with hypoplasia of the odontoid process (which is frequently a cause of myelopathy) generalized joint laxity relatively tall vertebral bodies short hands with clinodactyly of the little finger due to a hypoplastic middle phalanx ©24 • These are classified into 33 groups (1–33) abnormalities are intrinsic to bone and cartilage and will continue to evolve throughout life (C) Small square iliac wings, horizontal acetabular roofs, short sacrosciatic notches, progressive caudal narrowing of the lumbar interpedicular distances and low-set sacrum. <> ASPHYXIATING THORACIC DYSPLASIA (JEUNE’S) (GROUP 4) Lateral radiograph of the cervical spine. * (B) Mild kyphosis, posterior scalloping of the vertebral bodies, ‘bullet-shaped’ vertebral bodies and short pedicles with associated spinal stenosis. There is scalloping of the posterior vertebral body wall and enlargement of the exit foramen. CLINICAL PRESENTATION Femora are short with marked expansion, irregular ossification and some sclerosis of the metaphyses. Radiological features 10 0 obj Sporadic (autosomal dominant in some families) abnormalities are present from birth malformations of the skull, face, hands and feet proptosis high arched or cleft palate bifid uvula When present, they are often found with uterine, skeletal … Clinical presentation • This is also known as ‘achondroplasia tarda’ with milder features than those seen with achondroplasia (C) A cystic lesion (arrow) in the tibia at the prefracture stage. CLINICAL PRESENTATION A short 4th metacarpal flattening of the medial tibial condyle with a transitory exostosis beaked vertebral bodies osteoporosis scoliosis coarctation of the aorta increased occurrence of urinary tract anomalies (e.g. (B) Apert’s syndrome. can be defined as structural or functional anomalies (for example, metabolic disorders) that occur during intrauterine life and can be identified prenatally, at birth, or sometimes may only be detected later in infancy, such as hearing defects.In There is bilateral coxa vara, the metaphyses are splayed and irregular and there is lateral bowing of the femora. RADIOLOGICAL FEATURES (B) Lateral knee radiograph. 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