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THANATOPHORIC DYSPLASIA (GROUP 1) 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 … Objective of the presentation • Introduction to some of the basic definitions, terminologies related to anomalies … • 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 * • Neuromas ± fibromas (with enlarged cranial foramina) Autosomal dominant ear deformities deafness downslanting eyes lateral coloboma of the lower eyelid hypoplastic malar bone cleft palate There is a definite need for an easy and systematic analysis system, in order to try to categorize a skeletal … 5 0 obj UCTH had the highest recorded incidence of malformations with 327 cases, while SMHU and SLHA had totals of 52 and 73, respectively. 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. The bones are short and bowed. Find specific details on this topic and related topics from the Merck Vet Manual. Radiograph of the hand. (A) Radiograph of the pelvis showing hypoplastic pelvic wings (more pronounced on the right side) and a small iliac horn on the right ilium. Other congenital anomalies are the urogenital system 5%, Genetic disorders 7.5%, cardiovascular system 7.5% and skeletal system with 8.0% occurrence. A narrowed interpedicular distance at L5. CLINICAL PRESENTATION (B) Schmid type. 4 0 obj stream There is bilateral coxa vara, the metaphyses are splayed and irregular and there is lateral bowing of the femora. Generally, diseases outlined within the ICD-10 codes Q65-Q79 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. There is scalloping of the posterior vertebral body wall and enlargement of the exit foramen. Femora are short with marked expansion, irregular ossification and some sclerosis of the metaphyses. CLINICAL PRESENTATION – Multiple cartilaginous exostoses (diaphyseal aclasis) (Section 5 Chapter 5, Osteochondroma) Autosomal dominant multiple neurofibromas and schwannomas axillary freckling, café au lait spots and molluscum fibrosum Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome is a PIK3CA‐related overgrowth spectrum presenting with congenital… * *, This is also known as ‘achondroplasia tarda’ with milder features than those seen with achondroplasia, No normal widening is demonstrated in the interpedicular distance within the lumbar spine (travelling caudally). You may also needSkeletal Radiology in ChildrenThe Urinary TractGeneral characteristics of bone tumoursPaediatric genitourinary disordersEar, nose and throat radiologyBone Marrow DisordersMetabolic and endocrine skeletal diseaseRenal Transplantation Dr. Gobardhan Thapa MD Radiodiagnosis Resident, NAMS Bir hospital, Kathmandu Nepal Congenital skeletal anomalies 2. RADIOLOGICAL FEATURES 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 … Platyspondyly is shown, resulting in H-shaped vertebral bodies. • The development of dwarfism changes over time – the trunk gradually shortens relative to the limbs (due to the developing kyphoscoliosis) Autosomal dominant multiple skeletal abnormalities (dysplastic knees and elbows) dysplastic fingernails clinodactyly (curving of the 5th finger towards the 4th finger) renal disease (C) A cystic lesion (arrow) in the tibia at the prefracture stage. • Craniosynostosis: premature fusion of the skull sutures and facial bones 12 0 obj (B) Lateral knee radiograph. 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 … 684: Open access peer-reviewed. Congenital heart disease is a feature of a number of skeletal dysplasias and may be seen in type II achondrogenesis. 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 CHROMOSOMAL DISORDERS ASPHYXIATING THORACIC DYSPLASIA (JEUNE’S) (GROUP 4), Small thorax with short ribs (horizontally orientated), Asphyxiating thoracic dystrophy. Tubular bones 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 The plain radiographs show an extra digit on the ulnar side of the right hand. Note absence of the patella bone.©35. Radiographic musculoskeletal features of neurofibromatosis (B) The medial tibial plateau is depressed and the adjacent femoral condyle enlarged. • Macrocrania The MR image demonstrates dural ectasia with a widened spinal canal. Download Free PDF. • Autosomal dominant short stature cleft palate myopia maxillary hypoplasia thoracic kyphosis and lumbar lordosis barrel-shaped chest Related 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. <> • Angular kyphoscoliosis <> (B) Horizontal acetabular roofs and pronounced medial spurs, less pronounced laterally (‘trident’ appearance).  ‘Tombstone’ appearance: squared small iliac wings with a small sciatic notch • Dumb-bell neurofibromas/lateral meningoceles %&'()*456789:CDEFGHIJSTUVWXYZcdefghijstuvwxyz��������������������������������������������������������������������������� Radiograph of the hand. Log In or Register to continue Track any congenital anomalies and/or syndromes occurring with hypospadias (expect ~20% of cases). Short ribs with wide costochondral junctions. }�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�|^��� �?�� • Intraosseous cysts To help the clinician evaluating this variety of CULAs, the Oberg, Manske, and Tonkin (OMT) classification was recently introduced. “Mitten” polysyndactyly of soft tissues and bones. Turner’s syndrome. A cloverleaf skull is present. Wikimedia Commons has media related to Congenital diseases and disorders of musculoskeletal system . READ PAPER. 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