In many fetal skeletal dysplasias ,the skin and s/c tissue continues to grow at a rate proportionately greater than the long bones resulting in relatively thickened skin folds (on occasion mistaken for hydrops fetalis ) .
Polyhydraminos –common .cause –variable combination of the following –oesophageal compression by the small chest ,GI abnormalities ,micrognathia ,or hypotonia .
Sonographic evaluation of breast Dr. Muhammad Bin Zulfiqar
In this we will discuss role of high resolution Ultrasound in breast pathologies.
We will further discuss the role of Elastography in characterization of BIRADS.
Sonographic evaluation of breast Dr. Muhammad Bin Zulfiqar
In this we will discuss role of high resolution Ultrasound in breast pathologies.
We will further discuss the role of Elastography in characterization of BIRADS.
In this presentation we will discuss role of high resolution in characterizing normal variant and pathologies of spinal pathologies.
This is a pictoral review.
In this presentation we will discuss role of high resolution in characterizing normal variant and pathologies of spinal pathologies.
This is a pictoral review.
ADACTYLY IN FETUS
PORENCEPHALIC CYST IN FETUS
SEPTO-OPTIC DYSPLASIA IN FETUS
MUSCLE HERNIA IN ADULT
FETAL REDUCTION
AGENESIS OF CORPUS CALLOSUM
FLAT FETAL FACIAL PROFILE
Skeletal dysplasia musculoskeletal radiology is very concise and it cover the all-important topic of skeletal dysplasia with their characteristic feature and radiological findings with a proper radiographic image. Starting from classification and approach. It includes nosology classification. Thanks.
Data science is an interdisciplinary field that uses algorithms, procedures, and processes to examine large amounts of data in order to uncover hidden patterns, generate insights, and direct decision making.
Normal thyroid on US-
Homogenous with medium level echogenicity.
Thin hyperechoic capsule, which becomes calcified in pts with uremia or calcium metabolism disorder.
Superior and inferior thyroid artery and vein.
Mean diameter of artery 1-2 mm with PSV of 20-30 cm/s
Veins can ne dilated upto 10 mm.
The recurrent laryngeal nerve runs with inf thyroid artery and passes between esophagus and thyroid lobeon left side & logus coli and thyroid lobe on righjt side.
Scrotal Masses
98-100% accuracy in distinguishing intra and extra-testicular masses.
*** Most extratesticular masses are benign & most intratesticular masses are malignant
Malignant lesions are msotly hypoechoic.
Malignant neoplasia pts usually presents as
painless , unlateral testicular mass .
Clinically it is important to differentiate between Seminomas and Non Seminomatous germ cell tumors.
Grey scale Imaging – High frequency Transducers are used for most of peripheral veins (9 MHz). for iliac or inf venacava , transducer of 4-6 MHz are used. Superficial veins such as saphenous vein, calf veins need even higher frequency transducers ( 9-15 MHz).
Doppler Sonography – quantitative (duplex spectral) & qualitative (color Dopler) .
This combination of anatomic and physiologic information makes US-CD such a powerful tool in evaluation of vascular pathology.
The upper and lower extremity arteries , easy to examine, becoz of good imaging window.
Doppler frequencies are typically more than 3 MHz.
Though real-time gray-scale sonography is useful for evaluating the presence of atherosclerotic plaque or confirming the presence of extravascular masses. Color flow Doppler sonographic imaging allows the clinician to survey the area of interest rapidly, determine if vascular structures are present, and if so, characterize their blood flow patterns
Nuchal translucency
It is a sonographic pre natal screening scan to detect cardiovascular abnormality in a fetus.
NT can also detect altered extra cellular matrix composition and limited lymphatic drainage
G Sac seen within the thickened decidua .
Eccentric location within endometrium
Should abut the endometrial canal ( to differentiate it from decidual cyst )
On TVS -4& half -5 weeks
Thresold level – identifies the earliest one can expect to see a sac -4w3d
Discriminatory level – identifies when one should always see the sac- 5w 2d .
Ovulation was initially monitored by conventional methods like BBT, mid luteal serum progesterone and urinary LH.
Nowadays, USG is used for follicular monitoring for both natural and stimulated cycles.
By using transvaginal sonography, the bladder can be seen as early as 11 weeks of gestation. By 12 to 13 weeks, the bladder is visualized in 98% of cases using both transabdominal and transvaginal sonography.
Sonographic evaluation of fetal face is a part of anatomic survey in mid pregnancy
However , little is required; b/c according to american institute of ultrasound in modern practice guidelines, only visualization of fetal upper lip is mandatory during anatomy survey.
3D & 4D images are more informatory in cases where fetal face is hard to evaluate in 2D scan due to fetal position.
Malformations of Cortical Development
Cortex under goes complex development at neuronal/cellular level.
Neurons on outer surface of cortex undergoes 3 overlapping phases from 5th to 28th week.
Proliferation
Migration
organisation
Error of Dorsal Induction
Results in defect of closure of neural tube which leads to various anomalies like anencephaly, encephalocoele, spinal dysraphism and chiari malformations.
Generally occurs secondary to pulmonary atresia with intact IVS .
Pathophysiology- it develops because of a reduction in the blood flow secondary to inflow impedence from tricuspid atresia or outflow impedence from pulmonary arterial atresia .
Typical findings- a small , hypertrophic RV and a small or absent pulmonary artery
To study the morphological characteristics and enhancement patterns of probably malignant breast lesions on dynamic contrast enhanced MRI and to correlate the findings with Color Doppler imaging and histopathologically.
To evaluate importance of DWI in improving specificity of MR Breast.
4 BASIC TYPES OF DENSITY - air , water /soft tissues, metal /bone , fat
Two substances of the same density, in direct contact, cannot be differentiated from each other on an x-ray.
This phenomenon, the loss of the normal radiographic silhouette (contour), due to loss of difference in density is called the silhouette sign.
2 types (a) cellular NSIP
(b) Fibrotic NSIP (more common)
Fibrosis may involve alveolar septa, peribronchivascular interstitium, interlobular septa and visceral pleura.
Prognosis of fibrotic NSIP is worse , cellular NSIP has good prognosis.
HRCT finding may show both, airspace and interstitial patterns
Despite recent declines in its popularity, excretory urography still remains the cornerstone of radiological diagnosis of urinary tract
The strength of urography lies in its ability to provide overall survey of urinary tract; anatomic definition of the kidney, collecting system, and the lower urinary tract; as well as information about renal function
Pleural effusion
Is the commonest abn of pleura
Pathogenesis off pleural effusion
Inc cap HP – CHF
Dec cap OP - hypoalbuminemia.
Inc cap perm- inflammation.
Obst lymphatics - tumor.
Movement of fluid from extrathoracic site
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
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These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
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MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Anti ulcer drugs and their Advance pharmacology ||
Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
2. LETHAL SKELETAL DYSPLASIAS
ISTHERE A LETHAL
SKELETAL DYSPLASIA?
CHARACTERISTIC FEATURES
Severe micromelia
Pulmonary hypoplasia-M/I DETERMINANT
DISTINGUISHING FEATURES
Abnormal mineralization
Fractures
Presence or absence of macrocranium
Thoracic length
3. In many fetal skeletal dysplasias ,the skin and
s/c tissue continues to grow at a rate
proportionately greater than the long bones
resulting in relatively thickened skin folds (on
occasion mistaken for hydrops fetalis ) .
Polyhydraminos –common .cause –variable
combination of the following –oesophageal
compression by the small chest ,GI
abnormalities ,micrognathia ,or hypotonia .
5. SEVERE MICROMELIA WITH
DECREASED THORACIC
CIRCUMFERENCELSD MINERALIZAT
ION
FRACTUES MACROCRANI
A
SHORT
TRUNK
THANATOPHO
RIC
DYSPLASIAS
NORMAL NO YES NO
ACHONDROG
ENESIS
PATCHY
DEMINERALIS
ATION
OCCASIONAL YES YES
OITYPE2 GENERALISED
DE M
INNUMERABL
E
NO YES
HYPOPHOSPH
ATASIA
CONGENITA
PATCHY OR
GENERALISED
NO NO NO
6. SONOGRAPHIC ASSESSMENT OF BONES
Long Bones
Degree of limb shortening
Pattern of limb shortening
Degree of mineralization
Presence of fractures, bowing, or angulation
Abnormal shape or contour
Limb reduction anomalies
Hypoplastic or aplastic bones
7. SPINE
Degree and pattern of demineralization
Platyspondyly
Segmentation or curvature anomalies
Caudal regression syndrome
Myelodysplasia
8. THORAX
Thoracic length and circumference
Hypoplastic ribs
Bell-shaped thorax of pulmonary hypoplasia
Convex contour in cross section
9. HANDS AND FEET
Postural deformities
Abnormal number of digits
Syndactyly
11. FACIAL FEATURES
Cleft lip and palate
Hypertelorism and hypotelorism
Midface hypoplasia/flat nasal bridge
12. DEGREE OF LIMB SHORTENING
FL –AN abnormal FL –below -2SD for GA .
Using this cutoff ,2.5% of all fetuses would be
classified as having short limbs .this exceeds the
expected frequency of skeletal dysplasias thus
additional investigations are required to confirm
the diagnosis .
When 1 or all long bones measure < -2SD for
gestational age , a follow up USG should be done
in 3-4 weeks to evaluate the interval growth .if
interval growth is normal , high chances of being
normal .
13. However, further deviation from the mean by
atleast 1 SD should suggest the diagnosis of
skeletal dysplasia or severe IUGR .
If FL is 1 to 4mm below -2SD further serial
measurements are required to detemine if
skeletal dysplasia is present .
If FL is > 5mm below the -2SD there is a high
likelihood of skeletal dysplasias .
14. M/C etiology of short femur –either
inaccurate dating or constitutionally small
fetus or family history of less than average
stature.
Isolated ,symmetrical short femurs identified
at mid 2nd trimester –group of fetuses at
increased risk of LBW, SMALL FOR GA ,OR
SEVERE IUGR .they will also have small
abdominal circumferences .
15. Occasionally ,severe IUGR may present with
greatly shortened long bones ,associated
findings of normal or decreased skin fold
measurements ,oligohydraminos ,abnormal
placental morphology ,and abnormal doppler
waveforms .( whereas redundant thickened
skin folds and polyhydraminos typically
accompany short limb dysplasias )
16. Nonlethal skeletal dysplasias like
heterozygous achondroplasia are generally
not evident before 20 weeks gestation .
The findings of short long bones before 20
weeks indicate a more serious and usually
fatal skeletal dysplasia .
The earlier the detection of shortening ,the
worse is the prognosis .
17. PATTERNS OF LIMB SHORTENING
Rhizomelia: shortening of proximal segment
(femur, humerus).
Mesomelia: shortening of middle segment
(radius,ulna/tibia, fibula).
Acromelia: shortening of distal segment (hands,
feet).
Micromelia: shortening of entire limb (mild, mild/
bowed, severe).
19. The shape ,contour ,and density should be
assessed for the presence of bowing ,angulations
,fractures and thickening .
BOWING –nonspecific finding typically caused
by underlying osseous fragility .
Diseases associated with bowed ,bent or
angulated femur -40 distinct types but majority
belong to 3 disorders –campomelic dysplasia
,thantophoric dysplasia ,and osteogenesis
imperfecta .
20. Patients with OI types 1 and 4 can present with
apparent inutero bowing and shortening without
frank fractures of the long bones .
Anterior bowing of tibia ,fibula and humerus may
–suggest the diagnosis of campomelic dysplasia
associated findings –hypoplastic scapula
,cervical kyphosis are typicallypresent.
Bone fractures –may appear as angulations ,or
inteurrptions in the bone contour ,or as thick
,wrinkled contours corresponding tpo repititive
cycles of fracture and callous formation .
21. ACOUSTIC SHADOWING –decreased or absent indicates
reduced mineralisation of the long bones but its presence
doesn’t confirm normal mineralisation .
Spine – assess for segmentation anomalies ,kyphoscoliosis
,platyspondyly –M/C ( flattened vertebral bodies )
,demineralisation ,myelodysplasia , caudal regression
syndrome.
Demineralisation of spine –appearance of ghost vertebrae
or nonvisualisation of one or all the 3 ossification centres .
A progressively narrowed lumbar interpedicular distance is
associated with achondroplasia , a widened one is
associated with myelodysplasia .
22. PULMONARY HYPOPLASIA – M/I determinant in prognosis of
lethality of a given skeletal dysplasia .USG specifity is 85-95%
accurate in the diagnosis in its presence for th4e diagnosis of a
lethal skeletal dysplasia .
THORACIC CIRCUMFERENCE – measured at the level of the 4
chamberer heart and compared to normograms . A thoracic/
abdominal circumference ratio< 0.8 is considered abnormal .
THORACIC LENGTH – from the neck to the diaphragm .
Ribs are detemined if they are short.At the level of 4 chamber
cardiac view ,the ribs should normally encircle at least 70-80% of
the thoracic circumference .the ribs remain in a relatively
horizontal plane , as does the cardiac axis ,facilitating this
evaluation .
In the sagital view ,a markedly narrow AP diameter of thorax ,in
coronal view , a concave or bell shaped contour associated with
pulmonary hypolplasia .
23. Fetal cranium – assess for macrocranium ,frontal
bossing ,cloverleaf skull deformity underlying brain
abnormalities ,and facial abnormalities such as
saddle nose ,hypertelorism ,and cleftlip and palate.
An abnormal cranial contour may be seen with
craniosynostosis or premature fusion of the sutures .
The most reliable sonographic sign of reduced
mineralisation is increased compressibility of the
calvarium .typically seen in OI type 2,
achondrogenesis ,and hypophosphotasia .the falx
may appear abnormally bright or echogenic
compared to the demineralised calvarium .
24. View of the femur and
distal femoral ossification center
25. A, Normal femur: measure the longest length,
excluding the proximal and distal epiphysis and the specular reflection of the lateral aspect
of the distal femoral epiphysis (arrow).
B, Normal femur in the near field, with straight lateral border versus the curved medial
border in the far field of the transducer.
33. In lethal skeletal dysplasias, assessment of the fetal spine
ossification centers can provide helpful clues to the specific diagnosis.The
following cases are all lethal on the basis of pulmonary hypoplasia, as
evidenced by short ribs and a small thoracic circumference. A, Short-rib
polydactyly syndrome with normal ossification of all three spine ossification
centers (circle).
35. C, Hypophosphatasia with demineralization
of the posterior ossification centers but mineralization of the vertebral
body (circle).
36. Triplet B affected with campomelic dysplasia and pulmonary hypoplasia. Coronal
ultrasound
images of the thorax in triplet pregnancy at 27 weeks’ gestation. A, Normal triplet A
shows normal convex contour of the thorax. Calipers
measure the scapula. B,Triplet B shows a bell-shaped thorax. C, Radiograph of
triplet B confirms a bell-shaped thorax consistent with
pulmonary hypoplasia.
37. Foot length measurement. From the skin edge overlying the calcaneus to the
distal end of the longest toe. A,
Sagittal measurement; note the normal squared appearance of the heel. B, Plantar
measurement.
38. NORMAL FEMUR /FOOT LENGTH RATIO=1
Ratio remains constant from 14 weeks of
gestation onwards .
If fetus is constitutively small or has severe
IUGR this ratio remains 0.9 or greater
generally .
In most skeletal dysplasias charaterised by
short limbs ,this ratio is generally <
0.9because of the relative sparing of the
hands and feet .
39. THANATOPHORIC DYSPLASIA
Thanatophoric dysplasia at 33 weeks. A, Anteroposterior (AP) radiograph
shows normal mineralization,
short curved extremity bones, severe platyspondyly with U-shaped vertebral
bodies, and narrow thorax with short ribs.
40. B, AP specimen
photograph shows severe micromelia with relative sparing of the feet,
telescoping of the redundant skin folds, and small, bell-shaped
thorax. C, Profile specimen photograph shows macrocranium, frontal
bossing, and flattened nasal bridge.
46. THANATOPHORIC DYSPLASIA
M/C LETHAL SKELETAL DYSPLASIA
Thanatos meaning death and foros meaning
bearing or carrying ,and dysplasia means
abnormal growth of a tissue or organ .
Prevalence – 0.24 to 0.69 per 10,000 births .
KEY FEATURES – SEVERE MICROMELIA
WITH RHIZOMELIC PREDOMINANCE,
MACROCRANIA ,DECREASEDTHORACIC
CIRCUMFERENCE BUT A NORMALTRUNK
LENGTH .
47. MINERALISATION –NORMAL
NO FRACTURES
FORESHORTENEND EXTREMITIESTHATTHEY
PROTUDE AT RIGHT ANGLESTOTHE BODY .
SKIN FOLDS –thickened and redundant
secondary to a relatively greater rate of growth
of the skin and s/c layers than the bones .
Clinical presentation usually caused by large for
date measurements secondary to
polyhydraminos .
48. 2TYPES –
1) type 1 –more common ,caused by the R248C and
Y373C mutations in the fibroblast growth factor
receptor 3 gene displays the typical telephone
receiver shape of the extremities .This bowed or
curved appearance is secondary to the broadened
metaphyses at the ends of the severely shortened
tubular bones .
Associated with frontal bossing ,flattened nasal
bridge with midface hypoplasia .occasionally
,craniosynostosis results in a mild variant of
cloverleaf skull deformity .
Platysondyly .
49. TYPE 2- usually caused by the K650E mutation in
the FGFR3 gene ,the femurs are typically straight
with flared metaphses .
Most specific feature –cloverleaf skull due to
premature craniosynostosis of the lambdoid and
coronal sutures resulting in a trilobed
appearance of skull in coronal plane .other
conditions with cloverleaf deformity –
homozygous achondroplasia ,campomelic
dysplasia and trisomy 13 .
Both types are AD conditions .
50. D/D -1) HOMOZYGOUSACONDROPLASIA –
positive family history
2) CAMPOMELIC DYSPLASIA – moderate
and bowed form of micromelia typically
affecting the tibias with associated anomalies
.
52. Associated CNS findings –holoprosencephaly
,agenesis of the corpus callosum ,
polymicrogyria ,heterotopia ,and
ventriculomegaly.
Other anomalies- horseshoe kidneys
,hydronephrosis ,CHD ( ASD ,tricuspid
insufficiency ) ,radioulnar synostosis ,and
imperforate anus .
53. Homozygous achondroplasia at 34 weeks. A, Lateral profile is similar to
thanatophoric dysplasia with
macrocranium, frontal bossing, and flat nasal bridge. B, Axial image through the orbits
(calipers denote outer orbital diameter) and nasal
bones confirms a flat nasal bridge.
54. Thanatophoric dysplasia
at 33 weeks. A, Platyspondyly appears on ultrasound as a wafer-thin vertebral
body (arrows) with relatively larger hypoechoic intervertebral disc space on either side of
the vertebral body. B, Correlative lateral spine
radiograph. Note the short ribs with widecupped
metaphyseal ends.
55. CAMPOMELIC DYSPLASIA
CAMPO means BENT and melic means limb .
Bent limb dysplasia .
Rare autosomal dominant condition that usually
results from a new dominant mutation in the
SOX9 gene ( sex- determining protein homeobox
9 )
Most cases are lethal because of respiratory
insufficiency because of laryngotracheomalacia
in combination with a mildly narrowed thorax .
56. Characteristic skeletal features –short and ventrally
bowed tibia and femur , a hypoplastic or absent
fibula , talipes equinovarus ,and hypoplastic scapulae
,bowing may also be seen in upper extremities.
Additional skeletal features –scoliosis ,hypoplastic or
poorly ossified cervicothoracic vertebrae ,dislocated
hips ,11 rib pairs .
Facial abnormalities – micrognathia ,cleft palate (
pierre robin sequence )
Approx 33% fetuses have CHD and brain (
ventriculomegaly ) and renal ( pyelectasis )
abnormalities .
57. Sex reversal found in about 75% of the
affected 46XY cases, with a gradation of the
defects ranging from ambiguous genitalia to
normal female genital phenotype .
The gene responsible for campomelic
dysplasia is expressed in the fetal brain , the
testes , and the perichondrium and
chondrocytes of the long bones .
61. ACHONDROGENESIS
2nd M/C lethal skeletal dysplasia .
PREVALENCE-0.09 to0.23 per 10,000 births
Osteochondrodysplasia –deficiency of both bone and cartilage
development .
2 types -1&2( .type 1 –a &b AUTOSOMAL RECESSSIVE ,20%)
Genetics – type 1b- mutation diastrophic dysplasia sulfate
transporter gene
Type 2 –LANGER SALDINO FORM new dominant mutation in
COL2A1 GENE .(80%) NORMAL CALVARIAL OSSIFICATION BUT
absent ossification in the vertebral column ,sacral and pubic
bones
TYPE 1A – unknown pattern of inheritance , includes rib fractures
which is not seen in b type .
Type 1 –partial or complete lack of ossification of the calvarium
,vertebral bodies ,sacral and pubic bones .
62. MACROCRANIUM
SEVERE MICROMELIA
DECREASEDTHORACICCIRCUMFERENCEANDTRUNK
LENGTH
DECREASED MINERALISATION – most marked in the
vertebral bodies ,ischium and pubic bones leading to a
greatly shortened trunk length , decresed thoracic
circumference and occasional fractures
In hypophosphatasia congenita demineralisation
predominantly involves the post elements with only patchy
involvement of the vertebral bodies .
POLYHYDRAMINOSANDTHICK,REDUNDANT SKIN
FOLDS .
63. Achondrogenesis at 18 weeks. A, Coronal sonogram shows small thorax, redundant
subcutaneous tissues,
absent spine ossification (arrows), and decreased calvarial ossification. B, Postmortem
radiograph demonstrates macrocranium, decreased
calvarial ossification, virtually absent spine ossification (only some posterior elements are
ossified in the cervical region).There is severe
micromelia with strikingly short wide bones with metaphyseal spurs.The ribs are short and
horizontal with splayed ends
65. Osteogenesis imperfecta type IIA
at 32 weeks. Postmortem radiograph shows severe micromelia;
thickened bones with wavy contours caused by innumerable
fractures and exuberant callus formation; shortened ribs with multiple
fractures; and platyspondyly.