Short stature

Prepared by:Dr. Abdullah K. Ghafour2nd year IBFMS trainee

Supervised by: Dr. Ali Abdulnabi Alwan

Definition:• Height below 3rd centile or less than 2 standard deviations below the median height for that age & sex according to the population standard.Or• Even if the height is within the normal percentiles

but growth velocity is consistently below 25th percentile over 6-12 months of observation

Males

Age (y)

30

34

38

42

46

50

54

58

62

66

70

74

78

Hei

ght (

in)

Hei

ght (

cm)

2 4 6 8 10 12 14 16 18 2070

80

90

100

110

120

130

140

150

160

170

180

190

200

0

+2

+1

-1

-2

+2.0 SD (97.7 percentile)

-2.0 SD (2.3 percentile)

Generally accepted definition of normal range

Definition:

• Approximately 3% children in any population will be short

• Approximately half will be physiological & half will be pathological short stature

• Target height of the child:– BOYS:

[Father’s ht (cm)+ (mother’s Ht (cm)+ 13)] 2

– GIRLS:[(Father’s ht (cm) -13) + mother’s Ht(cm)] 2

A) Proportionate Short Stature 1) Normal Variants: i) Familial ii) Constitutional Growth Delay 2) Prenatal Causes: i) Intra-uterine Growth Restriction- Placental causes, Infections, Teratogens ii) Intra-uterine Infections iii) Genetic Disorders (Chromosomal & Metabolic Disorders)

Causes Of Short Stature:

Causes Of Short Stature:

3) Postnatal Causes: i) Undernutrition ii) Chronic Systemic Illness - Cardiopulmonary: CHD, Chronic Asthma,CF - Renal: RTA, CRF, Nephrotic Syndrome - GI and Hepatic: Malabsorption, CLD - Chronic Severe Infections - Hematological : Thalassemia, Sickle cell anemia

iii) Psychosocial Short Stature: (emotional deprivation)iv) Endocrine Causes: GH deficiency, Hypothyroidism, Juvenile DM, Cushing Syndrome, Pseudohypoparathyroidism, Precociouspuberty

Causes Of Short Stature:

B) Disproportionate Short Stature

1) With Short Limbs: -Achondroplasia, Hypochondroplasia, -Chondrodysplasia punctata, -Chondroectodermal Dysplasia, -Diastrophic dysplasia, Metaphyseal - Chondrodysplasia -Deformities due to Osteogenesis Imperfecta, -Refractory Rickets

Causes Of Short Stature:

B) Disproportionate Short Stature

2) With Short Trunk: - Spondyloepiphyseal dysplasia, Mucolipidosis, Mucopolysaccharidosis - Caries Spine, Hemivertebrae

Diagnostic Evaluation of short statureHISTORY

• Pregnancy history• Chronic illness or debilitating diseases• Psychological assessment• growth pattern to date and previous records• Family history of short stature

Diagnostic Evaluation of short staturePHYSICAL EXAM • accurate measurements

o Infantometer < 2Yo Stadiometer > 2Y

• body proportionso Upper segment: Lower segment ratioo arm span : height ratio

• Assessment of height velocity• pubertal staging(Tanners stages)

• Syndrome associated features

Diagnostic Evaluation of short statureINVESTIGATIONS:• Level 1 ( essential investigations):

o CBC with ESRo BONE AGEo Urinalysis ( Microscopy, pH, Osmolality)o Stool ( parasites, steatorrhea, occult blood)o Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, venous gas,

fasting sugar, albumin, transaminases)

Diagnostic Evaluation of short stature BONE AGE:

o Bone age assessment should be done in all children with short statureo Appearance of various epiphyseal centers & fusion of epiphyses with metaphyses tells about the skeletal maturity of the childo Conventionally read from X-ray of hand & wrist using Gruelich-Pyle atlas.o Bone age is delayed compared to chronological age in almost all causes of short stature except in Familial , Precocious puberty

Diagnostic Evaluation of short statureINVESTIGATIONS:• Level 2:

o Serum thyroxine, TSHo Karyotype to rule out Turner syndrome in girls

• Level 3:o Celiac serologyo Duodenal biopsyo GH stimulation test

Management:

• Counselling of parents ( for physiological causes)• Dietary advice ( Undernutrition, Celiac disease, RTA )• Limb lengthening procedures( skeletal dysplasias )• Levothyroxine ( In Hypothyroidism)• GH s/c injections ( GH deficiency, Turner syndrome, SGA, CRF

prior to transplant)

Verne Troyer Winston ChurchillMahatma Gandhi

Napoleon Bonaparte Charlie ChaplinGenghis Khan

I think that’s lame. I may be shorter than average, but I’m still successful, healthy and well-dressed. More importantly, I’m happy and surrounded by people who love me (and who I love). From 100 Famous Short Men book.

Achondroplasia• Achondroplasia is the most common form of

disproportionate short stature.• AD, 80% caused by a spontaneous mutation in the fibroblast growth factor receptor 3 (FGFR3)• Result is growth retardation of the proliferative zone of the growth plate, resulting in short limbs.• The growth plates with the most growth (proximal

humerus/distal femur) are most affected, resulting in rhizomelic (proximal more than distal)

short stature.• risk increases with advanced paternal age.

Clinical Features• Normal trunk and short limbs (rhizomelic shortening) • Frontal bossing, button noses, small nasal bridges, trident hands• Thoracolumbar kyphosis (disappear after ambulation).• Lumbar stenosis and excessive lordosis• Radial head subluxation• Normal intelligence but delayed motor milestones• standing height is below the third percentile.• Joint laxity is common and contributes to the characteristic standing posture: flat feet, bowed legs, flexed hips, prominent buttocks, lordotic spine and elbows slightly flexed.

Radiographic findings: X-Rays:

• All bones that are formed by endochondral ossification are affected, so the facial bones and skull base are abnormal but the cranial vault is not.• The foramen magnum is smaller than usual.• The tubular bones are short but thick & sites of muscle attachment

are prominent.• thoracolumbar kyphosis• pelvic cavity is small and the iliac wings are flared “champagne glass”.• genu varum

Radiographic findings:

CT of LS spine:• short pedicles leads to lumbar stenosis• vertebral interpedicular distance often diminishes from

L1 to L5• spinal canal is reduced in size.

MRI• spinal stenosis • foramen magnum stenosis

Management Spinal kyphosis:

• Bracing: indicated as first line of treatment in mild curves• anterior strut corpectomy and posterior fusion is indicated when bracing has failed or kyphosis of > 60° by age 5.

Lumbar stenosis:• Nonoperative: weight loss, physical therapy, cortico- steroid injections.• Operative: multilevel laminectomy and fusion is indicated when there are severe symptoms and nonoperative management has failed. ( in childrenolder than age 10)

Foramen magnum stenosis:• urgent decompression is indicated when cord compression is present

Management

Genu varum:• tibial osteotomies or hemiepiphysiodeses is indicated:

o symptoms are severeo Non-operative modalities have failed

Short stature:• limb lengthening through a metaphyseal corticotomy

o controversial due to high rate of complications and does not treat the other dysmorphic features.

References:

• Robert M. Kliegman, Bonita F. Stanton, [2016]Nelson TEXTBOOK of PEDIATRICS, 20th ed. by Elsevier, Inc. Canada.

• Albert J. Pomeranz, Svapna Sabnis, [2016] PEDIATRIC DECISION-MAKING STRATEGIES, SECOND EDITION, 2nd ed. An Imprint of Elsevier , Tennessee, USA.

• Solomon L., Warwick D. , Nayagam S.,[2010] Apley’s System of Orthopaedics and Fractures, 9th ed. Hodderarnold comp.,London, UK.

• Miller M. , Thompson S. , Hart J. ,[2012] REVIEW OF ORTHOPAEDICS [PDF], 6th ed. by Saunders, an imprint of Elsevier Inc. , Philadelphia, USA.

• Canale S. , Beaty J. , [2007] Campbell’s Operative Orthopaedics [PDF], 11th ed. By Mosby, An Imprint of Elsevier , Tennessee, USA.

• Jay R. Lieberman, MD. , [2009] AAOS Comprehensive Orthopaedic Review,2nd ed. American Academy of Orthopaedic Surgeons, USA.

• L. Ombregt, [2013] A System of Orthopaedic Medicine, 3rd ed. Elsevier Ltd. China.

Questions