Skeletal dysplasia
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Skeletal dysplasia is a genetically heterogeneous group of over 350 disorders that affect the development of bone and cartilage, leading to abnormalities in bone size, shape, and mineralization. Prenatally diagnosed skeletal dysplasias have a high risk of stillbirth, neonatal death, and perinatal death. The four most common types prenatally diagnosed are thanatophoric dysplasia, achondrogenesis, achondroplasia, and osteogenesis imperfecta. Prenatal diagnosis involves 2D imaging to identify skeletal abnormalities like shortened long bones, followed by amniocentesis, fetal echocardiogram, and referral to genetic specialists for counseling and management planning.
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Skeletal dysplasia
- 1. SKELETAL DYSPLASIASKELETAL DYSPLASIA (prenatal diagnosis)(prenatal diagnosis)
- 2. SKELETAL DYSPLASIA - Genetically heterogenous group of 350 distinct disorders, with generalized abnormalities in the skeleton - Affects the development of chondro osseus tissues leading to abnormalities in the size, mineralization and shape of various segments of the skeleton
- 3. SKELETAL DYSPLASIA - Incidence: • 2.4/10,000 births 23 % stillborn 32% early neonatal deaths • 9.1/1000 perinatal deaths Norton, M.E., MD, et al., CALLEN’S Ultrasonography in Obstetrics and Gynecology, Sixth Ed.
- 4. SKELETAL DYSPLASIA - Four (4) most common skeletal dysplasias: 1. Thanatophoric dysplasia 2. Achondrogenesis 3. Achondroplasia 4. Osteogenesis Imperfecta (OI)
- 5. 2D Imaging Detailed Anatomical Scan Molecular Testing Post delivery evaluation
- 7. 1.abnormal skeletal finding Or shortened long bones On routine ultrasound 2. Positive family history
- 9. Creasy & Resnik’s Maternal - Fetal Medicine 7th Edition., 2014
- 17. ACROMELIA
- 18. Fetal Cranium - Poor ossification of skull bones - Frontal Bossing - Cloverleaf skull
- 19. Creasy & Resnik’s Maternal - Fetal Medicine 7th Edition., 2014
- 20. Associated Anomalies: - Polyhydramnios - Hydrops Fetalis - Non skeletal anomalies e.g. cardiac, CNS, urogenital and facial anomalies
- 22. 1. Amniocentesis 2. Consider termination for lethal variants 3. Fetal Echocardiogram 4. Serial UTZ examination 5. Referral to Neonatologist and Genetics consultants for further counselling 6. Obstetric, neonatal and anesthesia Management plan
- 23. 1. Delivery in a Tertiary Care Facility 2. CS should be considered for skeletal dysplasias with fractures or bone demineralization or if the patient /mother herself has skeletal dysplasia
- 24. 1. If Lethal: neonatal resuscitative efforts not generally recommended 2. Continuing diagnostic assessment: - skeletal, spinal and cranial radiographs - molecular testing 3. Consultation with geneticist to help with formulating diagnosis and providing prognosis
- 25. - Depends on which skeletal dysplasia and on associated anomalies - Long Term Morbidity: * short stature * orthopedic complications * developmental delay * learning disabilities
- 28. Dighe, M., MD, et al. Fetal Skeletal Dysplasia: An approach to Diagnosis with Illustrative cases. 2008
- 29. Post Natal Evaluation: Minimal postmortem (autopsy) work-up should include: 1.External examination with Photographs 2.Post mortem whole body radiographs 3.Skin or other tissue biopsy specimen for chromosomal analysis Dighe, M., MD, et al. Fetal Skeletal Dysplasia: An approach to Diagnosis with Illustrative cases. 2008
- 30. - Prenatal diagnosis would be of much help, however, prognosis would still be poor in lethal cases - Multidisciplinary care is still mandatory for this kind of cases - Proper counselling and approach to management, prognosis and future recurrences should be focused on
Editor's Notes
- These conditions are caused by widespread disturbance of bone growth, beginning during the early stages of fetal development and evolving throughout life.
- Large multicenter study conducted by Camera, et al, in 1982,, birth prevalence of of skeletal dysplasias in Iltalian Multicentric monitoring system. They estiated
- Thanatophoric dysplasia and achondrogenesis accounts for 62 % of lethal skeletal dysplasias Most common non lethal skeletal dysplasia is achondroplasia
- Diagnosis of prenatal onset skeletal dysplasias can be accomplished by UTZ evaluation, wherein a consideration of skeletal dysplasia, As with any suspected congenital anomaly, a detailed fetal anatomic survey is required whenever a skeletal dysplasia is suspected. Ancillary sonographic findings frequently provide the clues that are necessary to narrow the differential diagnosis.and confirmed by molecular testing
- The challenges of its prenatal diagnosis would present in two ways 1. Incidental finding of abnormal (shortened, bowed, fractured or anomalous extremity During Routine UTZ examination 2. Strong family history when a patient has delivered an infant with skeletal dysplasia, or the mother herself is a case of skeletal dysplasia
- This suggested utz assessment was modifeid from the previous guidelines set by Krakow, et al as to the detailed anatomical scan that should be done for suspected cases. The suggestions went on to detail every aspect of a congenital scan and what to watch out for
- Now the skeletal dysplasia will classified accdg to site where the bones are shortened
- Varieties of short limb dysplasia according to the involved segment Rhizomelia: proximal limb (humerus, femur) is shortened Mesomelia: intermediate limb(rad,uln; tib,fib) is shortened Micromeila: entire limb shortened mild (<2 SD) severe (<3 SD)
- 25 YEAR OLD G3P2 woman on her 11 weeks of gestation. With other noted anomalies such as increased nuchal translucency, anasarca, small thorax, polydactyly, no ossification of spiNE and pelvic bones
- Acromelia distal limbs are shortened (hands and feet) Phalanges are short with thin diaphyses and wide metaphyses. Hypoplastic nails
- Dermineralization of skull seen in osteogenesis imperfecta Lateral ventricles and choroid plexus are well visualized which would signify that there is lack of mineralization of the skull bone Frontal bossing seen on sagittal view of the face and incidentally also has mivcrognathia usually seen in achondroplasia Cloverleaf skull seen in thanatophoric dysplasia
- This table shows the prominent ultrasound findings seen in cases of sekeletal dysplasia, and their associated conditions when these findings are seen. Most of these skeletal anomalies are a phenotypic manifestation of a gene mutation causing altered protein expression.
- Polyhydramnios can be seen in app 25-50% of skeletal dysplasias which may account for cases of pulmonary hypoplasia wherein the lungs are less functional to regulate amniotic fluid. Non immune type of hydrops fetalis can also be associated with skeletal dysplasia, which further suggests a poorer prognosis. Other non skeletal anomalies can also be seen
- This journal article by Dighe, et al, went on to discuss re: diagnostic approaches in diagnosing Fetal Skeletal Dysplasia. Like that of the Guidelines done by Krakow, et al the next year, the authors in this article tediously discussed An organized and comprehensive examination of the fetal skeleton .
- They showed a copy of their worksheet showing a systematic imaging process…
- Once diagnosis by ultrasound was settled, confirmation by molecular genesis would be done, since these would help in knowing wether the condition is lethal or non lethal, and would aid in counselling the future parents together with possible recurrence. Here are a list of genes that can be tested for confirmatory diagnosis of several types of skeletal dysplasia
- A substantial percentage of fetuses with a skeletal dysplasia die in utero, are stillborn, die as neo- nates, or are delivered after elective termination of pregnancy. Establishment of the correct diag- nosis of the skeletal dysplasia will likely require pathologic diagnostic work-up.
- Because skeletal dysplasias represent a very heterogeneous group of relatively rare disorders, making an accurate diagnosis is often challenging in practice.