Volume 24 Congenital Defects (Part 5) Aperts Hind foot defects Tibial pseudarthrosis Mesomelic dwarfism (Madlung’s) Misc. Iliac horn syndrome Klippel Feil & Sprengel’s deformity Arnold Chiari syndrome Mongolism-Down’s Syndrome Arthrogryposis Congenital absence of bone Hand deformities
Acrocephalosyndactyly (Apert’s Syndrome) Apert’s syndrome is an autosomal dominant disorder identifiedat birth because of a failure of suture line formation in the skullresulting in frontal bossing and a tower skull deformity knownas oxycephali. The cranial stenosis created by the lack of suturelines results in an increased intracranial pressure that producesa hammered metal appearance on x-ray and is frequentlyassociated with mental retardation. Hypoplasia of the facialbones creates a high arched palate associated with gaping of thelips. Proptosis and hypertelorism along with drooping of theouter canthus of the eyes gives a sad facial appearance. Terminalbone and soft tissue syndactylism creates a rose bud or mittenhand and foot deformity that requires early surgical correctionto restore good hand function. Likewise the cranial stenosisrequires an early creation of a surgically induced open sutureline known as the strip operation to avoid brain damage.
Case #1 Apert’s SyndromeMentally retarded young adultmale with a tower skull, cranialstenosis with hammered metalappearance, hypertelorism,proptosis, drooping lateral canthus,gaping lips and terminal bone &soft tissue syndactylism
Case #2 Apert’s SyndromeYoung boy with rose bud handdeformity from terminal bone& soft tissue syndactylism alongwith frontal bossing droopinglateral canthuses and open mouthsecond to Apert’s syndrome
Case #3 Familial Apert’s SyndromeA family group of Apert’ssyndrome in an institute formentally retarded withsyndactylism of hands andfeet some of which havealready had surgery
Congenital Rocker bottom FeetCase #1 Case #2 10 yr malePlantar flexed talus Congenital vertical talus
Case #3 Case #4 Pre op Stiff subtalar joint second to subtalar coalition To your right we have a calcaneal narvicular coalitionbefore and after surgical release Post op
Subtalar Coalitions Young adult with bilateral subtalar Unilateral subtalar coalitions with incomplete fusion of coalition with completesustentaculum tali to the medial facet fusion of the medial of the os calcis (yellow arrow) facet and sustentaculum
Congenital or Infantile Pseudoarthrosis of Tibia (kyphoscoliotic tibia) This condition develops typically in the first two years of life,is usually unilateral and may include the adjacent fibula. 85% ofcases start with an anterior bowing of the tibia with a scleroticendosteal thickening on the concave side of the curve similar tothat seen in PFFD congenital bowing of the femur which suggestsa common focal mesenchyme deficiency etiology. The bowingfrequently leads to a fracture and pseudoarthrosis that is slow toheal requiring various complex bone grafting or bone transportprocedures to establish union that may result in significant limbshortening or even amputation . The 15% that have a posteriorbowing have a better prognosis for healing spontaneously. Nearly50% of tibial peudoarthroses are associated with neurofibromatosisin which case the tibia is long and spindly with osteoporosis and
and cystic changes may be seen near the bowing apex. Healingin these cases is less of a problem for the treating surgeon.
Case #1 Kyphoscoliosis of Tibia 2 year old child with anterior medial bowing of the tibia & fibula with dense endosteal sclerotic thickening of the concave side of the curve
Case #2 & 3 Infantile Pseudoarthrosis Tibia 2 cases of young children with Anterior bowing of the tibia thatwent on to fracture and pseudarthrosisthe case to right has neurofibromatosis
Mesomelic Dwarfism Mesomelic dwarfism includes a large group of disordersinvolving the mid portions of the limb buds that usually stemsfrom an autosomal dominant inheritance pattern. Refer to thenext slide for a classification of the mesomelic disorders thatinvolve the radius and ulna of the forearm and the tibia andfibula of the leg. The milder forms such as dyschondrosteosisare more common and involves a dorsal-lateral bowing of theradius resulting in a dorsal bulging of the distal ulna referred toas a Madlung’s deformity. Another mild form of a paraxialmesomelic dwarfism is the Reinhardt-Pheiffer syndromewhich has a short hypoplastic ulna resulting developmentalposterior-lateral radial head dislocation that becomes noticeableat age six to eight years. Both of these milder forms can beunilateral or bilateral and may demonstrate mild dysplasticchanges in the tibia and fibula. The more severe forms includethe Langer and Nievergelt syndromes that demonstrate
extreme shortening of all long bones of the forearm and legs.Ellis-Van Creveld was included in the physeal disorders asan achromelic form of dwarfism but is included here becausethere is also a mild mesomelic shortening of the forearms andlegs along with a failure of segmentation of the carpal bonesand polydactylism. The Werner syndrome is unique becauseof polydactylism and an absent thumb. One might even considerphocomelia as a form of mesomelic dwarfism that results in asevere hypoplasia of the entire proximal two thirds of the limbbud leaving a seal-like flipper hand attached to the shoulder areawhich may be brought about with the taking of thalidomideat the critical fetal age of four to six weeks.
Mesomelic Dwarfism Classification
Case #1 Dyschondrosteosis with Madlung’s DeformityTeen age boy with classic Madlung’sdeformity of forearm with a dorsalbulging of the distal ulna resultingfrom a shortened and bowed distal radius
Case #2 Reinhardt-Pheiffer Syndrome 1 yr PO12 yr boy mesomelic shorteningof both forearms with gradualposterior lateral dislocation ofboth radial heads and capitellarosteochondritic defect treated with radial head resections
Case #3 Unilateral Reinhardt-Pheiffer Syndrome10 yr old female with hypoplasticshortening of the R ulna & resultantobliquity of radial head and capitellarosteochondritic defect treated with radial head resection
Case #4 Unilaterl Reinhardt-Phieffer Syndrome 13 yr old boy with a unilateral hypoplastic shortening of the left ulna with secondary deformity of the radial head and a loose osteochondritic fragment of the capitellum treated with resection of the radial head and loose fragment
Case #5 Langer Type Mesomelic DwarfismYoung adult noted tohave very short legs and forearms as a young child withnormal hands and humeral shafts
Osteo-Onychodysostosis (Iliac Horn Syndrome) Other names for this condition include the nail hair patellasyndrome, Fong’s disease and Turner’s syndrome. This conditiondemonstrates a wide variety of clinical findings stemming froma generalized collagen and ectodermal defects that are autosomaldominant in nature. The collagen defect results in an increasedlaxity of joints with severe valgus knees and hypoplastic patellaethat dislocate laterally. Acetabular dysplasia is common alongwith prominent posterior iliac horn deformities that are notedin early childhood. Cubitus valgus deformity of elbow frequentlyresults in radial head dislocation. The ectodermal componentsconsist of dysplastic nails and spotty alopecia similar to the Ellis-Van Creveld syndrome. Osteoporosis is a common finding andrenal failure leading to renal osteodystrophy can be a cause ofdeath at a young age.
Case #1 Iliac Horn Syndrome Severe tibia valgum, iliac horns (arrow),coxa valgum, cruciate instability, anteriorradial head dislocation and hypoplastic laterally dislocating patella
Case #2 Iliac Horn SyndromeThe above child was treated for acetabular dysplasia at age 1 yrto your left and on your right 11 yrs later one can see the iliachorns (arrow) and pelvic deformity including arthrokatadesis,coxa valgum and SI defects all related to osteopenia and ligamentous laxity
Klippel-Feil Syndrome & Sprengel’s Deformity Klippel-Feil syndrome is condition that includes a variety ofcongenital defects of the cervical spine that gives a clinical pictureof a short neck, low posterior hair line and restricted neck motiondue to blocked vertebrae. The condition is usually present at birthand not familial. There may be one or multiple blocked vertabrae(failure of segmentation), hemivertebra, spina bifida, kypho-scoliosis and spinal stenosis. A congenital defect of the odontoidsuch as Os Odontoidium may be seen. Cervical ribs are seen i15% of cases. Webbing of the neck (pterygium colli) can accentuatethe appearance of a short neck. Sprengel’s Deformityconsisting of a unilateral or bilateral elevation of the scapula canbe seen in 25% of cases, and of these 40% will have an omo-vertebral bone connecting the scapula to the upper posterior spinewhich can be formed by fibrocartilaginous tissue instead of bone.
Other anomalies include possible septal heart defects and renalanomalies.
Case #1 Klippel-Feil SyndromeYoung boy with short stiff neck with pterygium colli & low set ears with extra cervical rib on R with scoliosis, hemivertebra, failure of segmentation & spina bifida
Case #2 Unilateral Sprengel’s Deformity8 yr old child with undescented Lscapula with omovertebral boneattaching scapula to posterior C-5seen by arrow and photo of theresected bone to right
Case #3 Os Odontoidium in Klippel-Feil extension 14 yr male with failure of segmentation of several cervical vertebra along with un-united ossification center for dens (os odontoidium) arrow with instability in extension
Arnold-Chiari Syndrome & Diastematomyelia The Chiari II or Arnold-Chiari syndorme is a spinal cordmalformation associated with a myelomengocele and caudaldisplacement of the cerebellar tonsils and mid brain. The myelo-menigocele may result in a neurogenic bowel and bladder alongwith a paraparesis of the lower extremities. Intrathecal lipomasmay be seen in the area of the posterior element defect of thelumbosacral spine. Diastematomyelia is another spinal cord malformationresulting from a failure of closure of the neural tube duringfetal growth associated with a localized partial duplication ofthe spinal cord with widening of the pedicles and in some casesa bony spicule will be seen by x-ray at the spinal cord bifurcation.As in the Chiari syndrome one may find lipomatous changes inthe area of the filum terminale.
Arnold-Chiari SyndromeYoung child with a largemyelomenigocele of the LSspine with paraparesis andcaudal herniation of thecerebellar tonsils and midbrain
DiastematomyeliaYoung adult male with aslight scoliosis, mild paraesis,widening of the pedicles atlumbodorsal juncture and aspicule of bone seen by arrowat the T-9 level
Mongolism (Trisomy 21) (Down’s Syndrome) 95% of Down’s syndrome patients possess an extra chromosomedesignated #21. The condition is more common in older parents.The defects are noted at birth and include ocular anomalies suchas oblique fissures, epicanthal folds, cataracts, Brushfield spots(white flakes on iris), nystagmus and strabismus. Other problemsinclude hypotonia, brachacephaly, mental retardation, largetongue with puffy lips and hyperelasticity. 40% have hipdysplasia. Radiographic findings include flared iliac wings, hypo-plasia of the middle phalanx of the little finger associated witha flexion contracture (clinodactyly), short hand bones, micro-cephaly and high arched palates. Ligamentous laxity can causeC1-2 instability with cord compromise.
Case #1 Mongolism-Down’ Syndrome-Trisomy 21Mentally retarded girl withepicanthal folds, nystagmus,puffy lips, hyperelastic joints, short neck and trisomy 21
Hand seen at age 8 yrs with a hypoplastic middle phalanxof little finger and flexion contracture (clinodactyly) along with a single transverse palmar crease (simian line)
Arthrogryposis Multiplex Congenita (Amyoplasia Congenita) This condition is noted at birth and consists of severe flexion orextension contractures of major joints including the spine thatseems to result from a myopathic or neurogenic intra uterineprocess instead of a true arthrosis as the name arthrogryposiswould suggest. Early radiographic studies show a lack of musclevolume but instead we find fibrous bands and fat tissue wheremuscle should be seen. The actual joints appear normal but arestiff because of muscle rigidity. The bones are osteoporotic fromdisuse and fracture easily. Hip dislocations are common. Intrinsicplus deformities are seen in the hands and equinovarus resistantclub feet may be seen. Soft tissue releases for contractures arenot helpful but instead repeated corrective osteotomies arerequired during the growing years.
Case #1 Arthrogryposis Teen aged girl with stiff joints and flexion contracture of elbows, hips & knees with webbing of skin at elbow with radial head dislocation & intrinsic plus stiffness of the hands
Case #2 Arthrogryposis Young child with only fibrous bands for muscle in fatty tissue with severe flexion contractures and webbing of skin over osteoporotic spindly bones & normal macro section of elbow
Congenital Absence of Tibia & Fibula3 cases of children withvarious forms of agenesisof tibia, fibula and femur
Congenital AmeliaChild born without any limbswith only the clavicle andscapula noted on x-ray
Congenital absent sacrum & Extrophy of BladderInfant born with a sacrum Infant born with extrophy of& severe neurogenic bowel bladder and deficient pubis and bladder
Lobster Claw Hand & Foot7 yr girl born with a very rare symmetric deformity of both hands& feet with absent middle ray in the hand and middle three rays of the foot. Note absence of phalanges of ring finger and syndactylism of the thumb and index finger. Surgical treatment is usually not indicated because of excellent function
Congenital Bifid ThumbCommon form of polydactylism of the terminal portions ofthe thumb in an adult to your left and infant to your right.Surgical correction if any involves amputation of the none dominant member of the pair.
Congenital Hyperextension Deformity of the Knees Infant born with genu recurvatum which may be associated with club feet, tight IT bands, hypoplastic patella & subluxation ofknee 2nd to laxity of the posterior capsule and cruciate ligamentswhich can usually be corrected with early serial castings in flexion.