imaging in short stature

1. IMAGING IN SHORT STATURE
MODERATOR: DR SANJAY P
PRESENTER: DR SADANAND S B

2. • Short stature can be a sign of disease, disability, and social stigma
causing psychological stress.
• It is important to have an early diagnosis and treatment.
• Short stature may result from skeletal dysplasias, endocrine disorders,
may be familial, or may be the result of malnutrition and chronic
illnesses
• Short stature is defined as a height that is 2 or more standard
deviations below the mean for age and gender within a population

3. • Short stature may be proportionate or disproportionate
Proportionate:
v(there is generalized short stature in which both limbs and the trunk
are shortened) familial, constitutional, endocrine( hypopituitarism,
hypothyroidism)

4. • Disproportionate:
• It can be either
vLimb deficiency
Amelia: Complete limb absence
Meromelia: Partial limb absence
vShort limb conditions (there is reduced rate of growth of the limbs)
achondroplasia, hypochondroplasia, chondrodysplasia punctata,
chondroectodermal dysplasia, refractory rickets.
vShort trunk conditions (reduced growth rate of the torso or trunk)
spondyloepiphyseal dysplasia, mucopolysacharidosis, mucolipidosis,
hemivertebra.

5. • Radiological evaluation of a short statured patient includes
• (i) a skeletal survey to identify a dysplasia or exclude it as a cause,
• (ii) anteroposterior radiograph of left hand and wrist to determine
bone age (to assess skeletal maturity and give an estimate of
potential residual growth), and
• (iii) magnetic resonance imaging (MRI)/ computerized tomography
(CT) scan brain (pituitary-hypothalamic axis) if hypopituitarism is
suspected

6. • Skeletal dysplasias also termed as osteochondrodysplasias are large
heterogeneous group of disorders comprising of abnormalities of
bone or cartilage growth or texture

8. ACHONDROPLASIA
• Its Most common non lethal dysplasia & is the prototype of rhizomelic dwarfism.
• Most common congenital dwarfism & one of the oldest recorded growth
disorders.
• The characteristics of this dysplasia are recognizable at birth.
• Mental & sexual development are normal.

9. Skull:
• Large cranium with brachycephaly
• Frontal bossing
• mid-face hypoplasia
• stenotic foramen magnum

10. Spine:
• Length of spinal column is generally normal – normal trunk.
• Narrowing of spinal canal is the pathologic hallmark
• Posterior scalloping of vertebral bodies
• Anteriorly wedged or bullet-nosed vertebrae
• Exaggerated lumbar lordosis & angular kyphosis at thoracolumbar junction

11. Decreased interpedicular distance
cranio caudally in lumbar region
Spinal canal stenosis

12. Narrow interpedicular distance in lumbar spine
Posterior scalloping with thick & short pedicles
Increased disc height
Bullet-nosed vertebrae

13. Anterior flaring of ribs Anteroposterior shortening

14. Pelvis:
• Small pelvis with small sciatic notches
• Tombstone/ elephant ear shaped iliac
wings
• Champagne glass appearance of pelvis

15. Extremities:
• Symmetric rhizomelic shortening of all long
bones
• Ball and socket relationship/ chevron
deformity of metaphyses
Chevron deformity in femur

16. Shortening of the humerus Splayed & cupped metaphyses Short & thick tubular bones of feet

17. Short & thick tubular bones of hand Trident hand

18. • CT & MRI - useful in evaluating stenosis of craniocervical junction & lumbar spine.
• MRI - useful for evaluating brainstem, spinal cord, cauda equina & exiting nerve
roots.
COMPLICATIONS:
• At birth - difficult delivery (hydrocephalus), sudden death (cord compression due
to small foramen magnum).
• Childhood - sleep apnea & sudden death may result from compression
• Adulthood - spinal stenosis leading to cord compression with paraplegia, nerve
root compression & cauda equina syndrome.

19. CRANIOVERTEBRAL JUNCTION LINES
Mid sagittal section

20. DDs:
• Other dwarfing dysplasias:
• Mucopolysaccharidoses
• Spondyloepiphyseal dysplasia
• Hypochondroplasia
• Pseudoachondroplasia

21. HYPOCHONDROPLASIA ACHONDROPLASIA
Milder form of achondroplasia
Age of presentation 2-4 years of age
Short stature & limb shortening
At birth
Spine Mild vertebral changes
Spinal stenosis is less common
Limbs Rhizomelia + Mesomelia Rhizomelia
Skull & pelvis Normal
Trident hand Absent Present

22. PSEUDOACHONDROPLASIA ACHONDROPLASIA
Age at presentation 2 yrs At birth
Skull Normal
Spine • Central anterior tongue
appearance of vertebra
• Platyspondyly + (older age)
• Bullet shaped vertebra
• Platyspondyly -
Interpedicular distance Normal Decreased in lumbar spine
Epiphyses & metaphyses
abnormal
Medial beaking of femoral neck
Only metaphyses abnormal
Trident hand &
Champagne glass pelvis
Absent Present

23. Central anterior tongue
appearance of vertebra
Abnormalities of epiphyses + metaphyseal widening Medial beaking of femoral neck

24. PYKNODYSOSTOSIS
• Characterized by increased bone density, short limb dwarfism & skeletal fragility.
CLINICAL FEATURES:
• Manifest disproportionate short stature in early childhood.
• Additional loss of stature may be the result of multiple fractures
• Facial features - beaked nose, prognathic jaw, small face & prominent forehead.
• Anomalous dentition with high arched palate.
• Hands & feet are stubby, with spoon-shaped nails (koilonychia) & finger clubbing

25. • Unlike osteopetrosis, medullary canal is maintained in pyknodysostosis
RADIOLOGIC FEATURES:
• Generalized increase in bone density with preservation of medullary canal.
• Most prominent in long bones, which are subject to transverse pathologic
fractures.

26. Skull:
• Cranial sutures remain open with wide anterior
fontanelle
• Wormian bones
• Increased sclerosis of vault, base & orbital rims.
• Facial bones and sinuses are hypoplastic.
• Platybasia
• Mandibular hypoplasia
• Osteomyelitis of the jaw is a frequent complication.

27. Pelvis:
• Shallow & obliquely roofed
acetabula & coxa valga.
Extremities:
• Acroosteolysis - terminal
tufts of the fingers & toes

28. Spine:
• Hyperlordosis, scoliosis, kyphosis & block
vertebrae, especially at the craniovertebral &
lumbosacral regions.
• Spool-shaped vertebrae
• Persistence of anterior infantile notching
Thorax:
• Hypoplasia or absence of lateral ends of
clavicles
Spool-shaped vertebrae

29. DDs:
• Osteopetrosis
• Cleidocranial dysplasia
• Lack of anemia & preservation of medullary canal help distinguish
pyknodysostosis from osteopetrosis.
• Short stature & dense bones of pyknodysostosis are absent in cleidocranial
dysplasia.

31. SPONDYLOEPIPHYSEAL DYSPLASIA
• It is generally divided into congenita and tarda forms.

32. CONGENITA TARDA
INHERITANCE Autosomal dominant X-linked recessive mode (only males)
MANIFESTATION At birth In late childhood (5 to 10 years)
STATURE Short (37 to 52 inches) Short (52 to 62 inches)
THORAX Pectus carinatum Broad thorax with Pectus carinatum
SPINE
1. Vertebral body
2. Deformity
3. Cervical
instability
• Pear-shaped vertebrae
• Platyspondyly, thin disc space
• Severe scoliosis, kyphosis & lordosis
• Odontoid hypoplasia & non union of
odontoid
• Hump shaped/ Heaping up
• Platyspondyly, thin disc space
• Mild kyphosis & scoliosis
PELVIS Horizontal acetabular roofs
Short iliac wings
Small pelvis
EXTREMITIES • Delayed ossification of epiphysis
• Femoral head - coxa vara & premature
osteoarthritis of hip
• Rhizomelic limb shortening LL>UL
Irregular epiphyses
Premature osteoarthritis of hip

33. Pear-shaped vertebrae
Delayed ossification of proximal
humeral epiphysis
CONGENITA FORM

34. Small femoral epiphyses, horizontal acetabuli and short iliac wings
CONGENITA FORM

35. Hump-shaped or heaping-up vertebra
TARDA FORM

36. DDs:
• Morquio’s syndrome
• Morquio’s syndrome is an autosomal recessive mucopolysaccharidoses, that is
characterized by keratosulfaturia, corneal opacities & spinal changes.
• The disc height is normal or increased & the vertebral bodies are flattened with
central beaking.
• Also hands & feet are always abnormal in Morquio’s syndrome.

37. MUCOPOLYSACCHARIDOSES
• Lysosomal storage disorders - absence of lysosomal enzymes required for
degradation of glycosaminoglycan.
• Secondary deposition of GAGs in various tissues - skeletal, mental & visceral
abnormalities.
• Excessive urinary excretion of GAGs.
• Common skeletal features - epiphyseal abnormalities, proximal pointed
metacarpals & beaking in spine.

38. • McKusick classified these entities into six distinct syndromes:
o MPS I (MPS I H): Hurler’s syndrome
MPS I S: Scheie’s syndrome
MPS I H S: Hurler Scheie syndrome
o MPS II: Hunter’s syndrome
o MPS III: Sanfilippo’s syndrome (subtypes A, B, C, and D)
o MPS IV: Morquio’s syndrome (subtypes A and B)
o MPS VI: Maroteaux Lamy syndrome
o MPS VII: Sly’s syndrome

39. MPS-I: HURLER’S SYNDROME
• aka Gargoylism, represents classical prototype of MPS.
CLINICAL FEATURES:
• Usually normal at birth & manifests after 1st year of life.
• Coarse facial features - large head, hypertelorism, sunken nose, large
lips, protruding tongue, short & malformed teeth, corneal opacities
• Short stature
• Protuberant abdomen with hepatosplenomegaly, umbilical &
inguinal hernia
• Mental retardation with deafness
• Cardiomegaly & cardiac murmurs
• Death usually occurs in 2nd decade (pneumonia or cardiac failure)

40. RADIOLOGIC FEATURES:
Skull:
• Macrocephaly with frontal bossing
• Calvarial thickening
• Premature closure of sagittal &
lambdoid sutures.
• Enlarged & J shaped Sella turcica.
• Hypoplastic sinuses & facial bones.
• Widened mandibular angle.
Enlarged & J - shaped Sella turcica

41. Spine:
• Hypoplastic lower thoracic & upper
lumbar bodies with inferior beaking.
• Thoracolumbar kyphosis develops
secondary to vertebral body hypoplasia.
• Pedicles are long & slender.
• Atlantoaxial subluxation with upper
cervical instability.
Hypoplastic vertebral body with inferior beaking

42. Thorax:
• Paddle or oar-shaped or spatulated
appearance of ribs.
• Cardiomegaly
Pelvis:
• Flared ilia with obliquely directed
acetabular roofs.
• Coxa valga or vara.
Paddle shaped ribs

43. Extremities:
• Varus deformity of humerus is characteristic.
• Metacarpals & phalanges are short with
widened diaphyses - middle constriction of
diaphyses is lost.
• Metacarpals appear broad distally & tapered
proximally - bullet shaped.
DDs:
• Morquio’s syndrome
• Achondroplasia
• Hurler’s syndrome patient is normal at birth &
achondroplasia is easily discerned in the
infant. Bullet shaped metacarpals

44. MPS-IV: MORQUIO’S SYNDROME
• Two forms have been described (analysis of enzyme deficiency)
• Type A - severe form
• Type B - milder form
• Facial features similar to Hurler’s syndrome.

45. RADIOLOGIC FEATURES:
Spine:
• Universal platyspondyly with central beaking is
nearly pathognomonic.
• L1 or L2 vertebra is posteriorly displaced &
hypoplastic.
• Disc spaces are normal or increased.
• Atlantoaxial instability - hypoplastic or absent
odontoid.
Platyspondyly with Central beaking

46. Platyspondyly with normal disc space
Odontoid agenesis

47. Extremities:
• Metacarpals & phalanges are short & thick with
maintained middle constriction of diaphyses.
• Metacarpals appear broad distally & tapered
proximally - bullet shaped.
• Delayed & irregular ossification of carpals &
tarsals.
• Along with epiphyseal irregularity, metaphyses
are widened to accommodate the enlarged
epiphyses.
Bullet shaped metacarpals

48. Pelvis:
• Hypoplastic acetabuli & femoral head
• Unstable hips with hip dislocation
• Wide femoral necks with coxa valga or vara
DDs:
• Spondyloepiphyseal dysplasia
• Spinal changes are characteristic in each disorder &
biochemical findings helps in differentiation.

49. Poorly formed acetabula and femoral heads Widened femoral necks

50. HURLER’S SYNDROME MORQUIO'S SYNDROME
Inferior beaking Central beaking
Platyspondyly with maintained/ increased
intervertebral disc spaces
Not all vertebra are involved Most of the vertebra are involved
Middle constriction of tubular bones of
hand is lost
Middle constriction is maintained
Enlarged & J - shaped sella Normal sized sella
Hepatosplenomegaly - present Absent

51. Congenital hypopituitarism
• Congenital hypopituitarism (CHP) is an important cause of short stature.
• It may present with isolated growth hormone deficiency (IGHD) or multiple
pituitary hormone deficiencies (MPHDs).
• MRI is the modality of choice in evaluation of pituitary-hypothalamic axis (PHA) in
children with CHP.
• The primary role of MRI is to detect tumors of PHA that may require urgent
surgical intervention. MRI has a secondary role in identifying PHA related
structural abnormalities responsible for IGHD or MPHDs.
• CNS tumors account for ~23% of abnormal findings in patients with growth
failure;
• These include craniopharyngioma, hypothalamic/optic chiasm glioma,
hypothalamic hamartoma, pituitary adenoma, germinoma and
leukemia/lymphoma.

52. • Structural anomalies of PHA causing growth hormonal deficiency
include pituitary hypoplasia, pituitary stalk interruption, ectopic
posterior pituitary, and empty sella syndrome.
• Congenital hypopituitarism (CHP) may also be associated with midline
CNS defects like anencephaly, holoprosencephaly, septo-optic
dysplasias, corpus callosum dysgenesis, agenesis of septum
pellucidum and arachnoid cyst.
• MRI is extremely helpful in selection and management of patients
with hypopituitarism by early diagnosis of the evolving pituitary
hormone deficiencies.

53. Opticochiasmatic–hypothalamic pilocytic
astrocytoma

54. Cystic craniopharyngioma

55. Empty sella syndrome

56. Corpus callosum agenesis

57. Hypothyroidism
• Thyroxine deficiency has a detrimental effect on the growing child.
• Delay in commencing thyroxine replacement therapy results in short
stature and irreversible brain damage.
• The most common cause of congenital hypothyroidism (CHT) is
thyroid dysgenesis or complete absence.
• Epiphyseal dysgenesis (irregular, deformed and stippled epiphysis) is
the radiological hallmark of longstanding untreated hypothyroidism.
• Spine may show platyspondyly and thoracolumbar kyphosis.

58. • Diagnosis of CHT is generally confirmed by measuring serum TSH and
thyroxine concentrations.
• Acquired hypothyroidism (AHT) is largely due to autoimmune thyroiditis
(Hashimoto's thyroiditis) which rarely occurs under the age of 3 years.
• Patients with AHT usually have growth failure and delayed puberty.
• Bone age is significantly delayed in both types of hypothyroidism and the
degree of delay of skeletal maturation is often indicative of duration of
illness.
• Anteroposterior radiograph of hand and wrist is used to determine the
bone age and assess skeletal maturity.
• Thyroid scan may be indicated to assess congenital thyroid anomalies (e.g.,
agenesis/hypoplasia) or if a thyroid mass is palpable (e.g., goitrous
enlargement of thyroid in Hashimoto's thyroiditis).

60. Cushing's syndrome
• Paediatric Cushing's disease (CD) is a rare cause of short stature.
• ACTH secreting pituitary microadenoma is the most common cause of
CD.
• Increased serum cortisol level and pituitary MRI demonstrating ACTH-
secreting microadenoma are important diagnostic tests to confirm
the clinical suspicion.
• However, because of co-existence of an ACTH secreting
microadenoma and a pituitary incidentaloma, bilateral inferior
petrosal sinus sampling (BIPSS) with corticotrophin-releasing
hormone (CRH) stimulation test may be needed for preoperative
localization of the microadenoma.

61. ACTH secreting pituitary microadenoma

62. Precocious puberty
• Precocious puberty is defined as pubertal development occurring before
the age of 8 years in girls and before 9 years in boys.
• The accelerated bone maturation leading to reduced stature.
• CNS causes of precocious puberty include congenital anomalies (such as
hypothalamic hamartoma, arachnoid cyst, septo-optic dysplasia),
hydrocephalus, infection, trauma or
Tumors (like hypothalamic astrocytoma, craniopharyngioma,
ependymoma, and rarely a pituitary adenoma).
• Central precocious puberty may be associated with McCune-Albright
syndrome and Neurofibromatosis type-1.
• Non-CNS tumors causing precocious puberty include adrenal adenoma or
carcinoma, gonadotropin producing choriocarcinoma, teratoma,
hepatoblastoma, and ovarian or testicular neoplasm. The primary role of
imaging (MRI/CT/USG) is to detect or exclude structural abnormalities
causing precocious puberty.

63. Hypothalamic hamartoma

64. Conclusion
• Although a number of simple diagnostic measurements (including
weight/height ratio and U/L limb ratio) and associated clinical findings
(including dysmorphic features and growth retardation) may be
helpful in identifying the disorders causing short stature,
• The radiological imaging techniques provide useful diagnostic clue to
the physicians and help them to confirm their diagnosis. Skeletal
survey with plain X-ray is particularly useful to identify or exclude a
dysplasia as a cause of short stature, X-ray hand and wrist is used to
determine the bone age, ultrasound helps in evaluation of thyroid
pathology, and MRI/CT brain primarily demonstrates pathologies of
pituitary-hypothalamic axis causing paediatric neuroendocrine
dysfunction and consequently short stature.

65. References
• Yochum and Rowe’s ESSENTIALS OF SKELETAL RADIOLOGY
• Subbarao K. Skeletal Dysplasia (Sclerosing dysplasias – Part I) . NJR I
VOL 3 I No. 2 I ISSUE 5 I July - Dec, 2013
• Skeletal dysplasias: A radiographic approach and review of common
non-lethal skeletal dysplasias, Panda A, Gamanagatti S, Jana M, Gupta
AK, World J Radiol 2014; 6(10): 808-825
• Chaudhary V, Bano S. Imaging in short stature. Indian J Endocr Metab
[serial online] 2012 [cited 2019 Aug 20];16:692-7

66. THANK YOU.