congenital anomalies of skeletal system pdf

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Congenital disorders can be due to viral infections of the fetus or to ingestion of toxic plants by the dam at certain stages of gestation. Log In or, Click to share on Twitter (Opens in new window), Click to share on Facebook (Opens in new window), Click to share on Google+ (Opens in new window), These are classified into 33 groups (1–33), Osteogenesis imperfecta (Section 5 Chapter 7, Osteogenesis imperfecta), Multiple cartilaginous exostoses (diaphyseal aclasis) (Section 5 Chapter 5, Osteochondroma), Enchondromatoses (± haemangiomas) (Section 5 Chapter 5, Benign bone tumours: (En)chondroma), Fibrous dysplasia (Section 5 Chapter 5, Fibrous dysplasia), DYSOTOSES (LOCALIZED DISORDERS WITH PREDOMINANT CRANIAL AND FACIAL INVOLVEMENT), They are due to altered blastogenesis occurring during the 1, Osteo-onychodysostosis (nail-patella syndrome, Fong syndrome), Mandibulofacial dysostosis (Treacher Collins syndrome), Symmetrical stenosis or atresia of the external auditory meati, The iliac wings are flared with relatively horizontal acetabulae, Patients have a classical form of ovarian dysgenesis (with streak ovaries and a small uterus), 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), 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), Nail-patella syndrome. • Pseudoarthroses of the tibia, fibula, or clavicle • 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) • 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) THANATOPHORIC DYSPLASIA (GROUP 1) $4�%�&'()*56789:CDEFGHIJSTUVWXYZcdefghijstuvwxyz�������������������������������������������������������������������������� ? OSTEOCHONDRODYSPLASIAS Mandibulofacial dysostosis (Treacher Collins syndrome) By Fanni Rebeka Erős and Artúr Beke. Track any congenital anomalies and/or syndromes occurring with hypospadias (expect ~20% of cases). (B) Horizontal acetabular roofs and pronounced medial spurs, less pronounced laterally (‘trident’ appearance). (C) Small square iliac wings, horizontal acetabular roofs, short sacrosciatic notches, progressive caudal narrowing of the lumbar interpedicular distances and low-set sacrum. See table • 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  Group 25 (dysplasia with increased bone density) HYPOCHONDROPLASIA (GROUP 1) • 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 14 0 obj – Enchondromatoses (± haemangiomas) (Section 5 Chapter 5, Benign bone tumours: (En)chondroma) (A) Apert’s syndrome. • Variable inheritance (autosomal dominant or recessive) short limbs relatively narrow chest small appendage in the coccygeal region (tail) progressive kyphoscoliosis Wikimedia Commons has media related to Congenital diseases and disorders of musculoskeletal system . If the … • Autosomal dominant short stature cleft palate myopia maxillary hypoplasia thoracic kyphosis and lumbar lordosis barrel-shaped chest CLINICAL PRESENTATION ©24 RADIOLOGICAL FEATURES (A) Radiograph of the pelvis showing hypoplastic pelvic wings (more pronounced on the right side) and a small iliac horn on the right ilium. Radiological features Radiographs in a newborn with metatropic dysplasia. NEUROCUTANEOUS SYNDROMES To help the clinician evaluating this variety of CULAs, the Oberg, Manske, and Tonkin (OMT) classification was recently introduced. * Short stature cubitus valgus webbed neck widely spaced nipples lymphoedema Lateral radiograph of the cervical spine. A case of a 17 years old girl with these associations and a … • 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 1 0 obj Congenital skeletal anomalies 1. 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 <> <> endobj • These are classified into 33 groups (1–33) abnormalities are intrinsic to bone and cartilage and will continue to evolve throughout life ���� JFIF ` ` �� ZExif II* J Q Q � Q � �� �� �� C Spine Clinical presentation SELECTED OSTEOCHONDRODYSPLASIAS )-,3:J>36F7,-@WAFLNRSR2>ZaZP`JQRO�� C&&O5-5OOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOO�� k j" �� CLINICAL PRESENTATION Ribs 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. 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 … DEFINITION endobj Frequent cardiac anomalies associated with dextrocardia include ventricular septal defect, transposition of the great arteries, atrial septal defects, double outlet right ventricle and juxtaposition of the atrial appendages. PEARLS <> CLINICAL PRESENTATION stream Some abnormalities of the skeletal system are rare but severe, and some can be treated. %���� “Mitten” polysyndactyly of soft tissues and bones. • 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 • Craniosynostosis: premature fusion of the skull sutures and facial bones The MR image demonstrates dural ectasia with a widened spinal canal. UCTH had the highest recorded incidence of malformations with 327 cases, while SMHU and SLHA had totals of 52 and 73, respectively. �� � w !1AQaq"2�B���� #3R�br� • Madelung deformity: a reduced angle between the distal radial and ulnar metaphyses The highest occurrence was in the skeletal system … CLINICAL PRESENTATION • Neurofibrosarcomas • 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 ACHONDROPLASIA (GROUP 1) Congenital skeletal anomalies Some types that might fall within this range are any form or clubfoot, fused fingers or hands, unusual growth or lack of growth of skeletal … Slideshare uses cookies to improve functionality and performance, and to … DEFINITION • ‘Mitten’ or ‘sock’ deformities: these are due to syndactyly (fused digits) of the hands and feet “Mitten” polysyndactyly of soft tissues and bones. 3 0 obj <> (B) Apert’s syndrome. endobj – Fibrous dysplasia (Section 5 Chapter 5, Fibrous dysplasia) Epiphyses are large and rounded. RADIOLOGICAL FEATURES – Multiple cartilaginous exostoses (diaphyseal aclasis) (Section 5 Chapter 5, Osteochondroma) • 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. Learn about the veterinary topic of Congenital and Inherited Anomalies of the Musculoskeletal System in Multiple Species. • Severe short-limbed dwarfism • These are classified into 3 groups (A–C) * The MURCS syndrome is a very rare complex association of mullerian, renal tract and cervicothoracicsomite anomalies. • Posterior scalloping of the vertebral bodies (dural ectasia) • Dumb-bell neurofibromas/lateral meningoceles Radiograph of the hand. The musculoskeletal system … There is bilateral coxa vara, the metaphyses are splayed and irregular and there is lateral bowing of the femora. Apert’s syndrome Craniofacial abnormalities (e.g. Share this:Click to share on Twitter (Opens in new window)Click to share on Facebook (Opens in new window)Click to share on Google+ (Opens in new window) – Osteogenesis imperfecta (Section 5 Chapter 7, Osteogenesis imperfecta) 7 0 obj Download PDF. Neurofibromatosis <> (B) The medial tibial plateau is depressed and the adjacent femoral condyle enlarged.† 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. (D) Short skull base with prominent frontal bone and narrow cervical canal. Thanatophoric dwarfism. (B) Mild kyphosis, posterior scalloping of the vertebral bodies, ‘bullet-shaped’ vertebral bodies and short pedicles with associated spinal stenosis. Radiological features RADIOLOGICAL FEATURES Overgrowth of the distal fibula in hypochondroplasia. Note also bony fusion of the fifth metacarpal digit and the metacarpal of the extra digit (bony syndactyly).©35 (B) The medial tibial plateau is depressed and the adjacent femoral condyle enlarged. • Angular kyphoscoliosis By Shiori Nakano, Haruyuki Makishima and Shigehito Yamada. Download Full PDF Package. 10 0 obj Nail-patella syndrome. Turner’s syndrome. Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). 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