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Growth and Development > Disorders of growth and development in children > Flashcards

Disorders of growth and development in children Flashcards

1
Q

Growth

A

Complex biological phenomenon that starts at conception and is regulated by nutritional, hormonal and genetic factors

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2
Q

When is growth fastest

A

Conception to infancy

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3
Q

Distinct phases of somatic growth in children

A

Infancy
Childhood
Puberty

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4
Q

Growth pattern in infancy

A

Rapid foetal growth
In infancy deceleration of the foetal growth rate
-determinant: nutrition

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5
Q

Growth pattern in childhood

A

Slow deceleration except mid childhood adrenal spurt

-determinant: growth hormone

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6
Q

Growth pattern in puberty

A

Pubertal growth spurt

-determinant: sex steroids and growth hormone

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7
Q

WHO child growth standards

A

For measuring growth in children, checking they’re healthy

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8
Q

Measuring growth

A 
Growth charts
-height
-weight
BMI (proxy for body fat)
Bone age
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9
Q

Difference in BMI children vs adults

A

adults: (weight/height)^2
- cut-offs 18-25
children: calculated against age and gender
- use for pxs that need sedation or GA

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10
Q

BMI

A 
Mass (kg)/ (height(m))^2
Proxy for body fat
<18.5 underweight
=18.5 to 25 optimal weight
>25 overweight
>30 obese
>40 morbidly obese
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11
Q

BMI for general anaesthetic

A 
High BMI (overweight), more chance of complications
-sleep achnea, taking more drugs to get them to sleep
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12
Q

The concept of bone age

A

The use of standardised X-rays
Estimate the maturity of each epiphyseal centre of the left hand wrist to derive a score
The age at which the score is on 50th centile is the bone age of the individual

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13
Q

Bone age standard system

A

Tanner & Whitehouse

-quantify how much growth has occurred and how much is to come

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14
Q

Common causes of short stature of failure to thrive

A

Nutritional
-under nutrition
-malabsorption: intestinal infection, CF, Crohns, Coeliac
Constitutional
-individual and familial short stature
Intra-uterine growth retardation
-damage by alcohol, drugs
-genetic e.g. Down’s Syndrome
Systemic disease
-heart, lung, renal, haematological, diabetes mellitus
-endocrine e.g. hypothyroid, hypopituitary
Iatrogenic
-steroid excess
Inherited
-achondroplasia, hypophosphatasia, Noonan’s syndrome

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15
Q

Terminology

A 
Environmental defect
Chromosomal disorder
Single gene defect
Polygenic disorder (multifactorial)
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16
Q

Environmental factors

A 
Drugs/ chemicals
-Thalidomide, Epanutin, Warfarin, Alcohol, Fluoride (teeth)
Radiation
Infection e.g. zika
Metabolic defects e.g. if mother has diabetes
Hyperthermia
Vascular 
Amniotic bands
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17
Q

Amniotic band disruption

A

Congenital disorder caused by entrapment of fetal parts by part of amniotic band (usually a limb or digits) in fibrous amniotic bands while in utero

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18
Q

Birth defects - more terminology

A 
Single/ isolated defect
Multiple defects
-associations
-sequences
-field complexes
-syndromes
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19
Q

Single system defect

A

Common and often multifactorial

e. g. abnormal or failed completion of embryonic process
- e.g. cleft lip
- e.g. spina bifida (incomplete closure of neural tubes)

20
Q

Associations

A

Combinations which are associated statistically but underlying mechanism not clear e.g. VATER, CHARGE

21
Q

VACTERL

A 
Vetebral anomalies
Anal atresia
Cardiac defect
Tracheo-
Esophageal atresia
Radial and Renal anomalies
Limb abnormality
22
Q

Potter’s sequence

A
  • Includes oligohydramnios*
  • squashed facies
  • joint contractures
  • bowed limbs
  • lung hypoplasia
23
Q

Pierre-Robin sequence

A

Early mandibular hypoplasia –> glossoptosis –> failed palatal closure

24
Q

Sequences

A

Potter’s sequence

Pierre-Robin sequence

25
Q

Field complexes

A

Insult to localised part of an embryo resulting in abnormalities in adjacent structures of disparate embryonic origin
-e.g. stapedial artery interruption in rodents –> hemifacial microsomia

26
Q

Syndrome -Trisomy 21 dental symptoms

A

Down’s Syndrome

  • large, fissured tongue
  • periodontal disease
  • hypodontia
  • microdontia
  • enamel defects
  • class 3 malocclusion due to maxillary retrognathia
27
Q

Pierre Robin sequence management implications

A 
breathing difficulties
feeding difficulties
cleft palate
speech therapy
dental care
possible learning disability
28
Q

Trisomy 21 non-dental symptoms

A 
Learning delay 
Cardiac Defects (70%)
Relatively short neck, unstable atlanto-axial joint 
Short stature
Increased risk of Leukaemia
Hypotonia 
Hypothyroidism
Epilepsy, Alzheimers
29
Q

Williams syndrome

A 
Deletion of genes Ch 7
Fault in calcium metabolism leading to xs calcium
Failure to thrive in infancy
Highly verbal and overly sociable
Characteristic facial appearance “Elfin”
Short stature
Delayed growth
Variable learning delay &amp; behavioural problems
Heart defects
Susceptible to loud noise
Renal calculi
-angel like faces
30
Q

General disorders of growth and development

A 
Osteogenesis imperfecta
Down’s syndrome
X-linked Vitamin D resistant rickets
Cleidocranial dysostosis
Achondroplasia
Gigantism
Acromegaly
31
Q

Dental disorders of growth and development

A

Dentinogenesis imperfecta

Amelogenesis imperfecta

32
Q

Dentinogenesis imperfecta

A

AD Inherited disorder of dentine
Can be associated with OI
Three types

33
Q

Three types of dentinogenesis imperfecta

A

1) Mutation in Type I collagen. Associated with OI, Chromosome 7 and 17
2) Mutation in Dentine Sialophosphoprotein I Gene, Chromosome 4
3) Brandywine Isolate, Maryland Chromosome 4

34
Q

Background of DI

A

Shield’s 1973 classification based solely on clinical phenotype
Human mutations of DSPP gene –> Shield’s DI types II and III and DD type II
Genetics show these are a severity variation of the same pathology, i.e. a single entity with variability of expression
i.e. DD type II mild form of DI and DI type III severe form of DI
Defect in non-collagenous dentine matrix proteins (DSP, DPP and DGP)

35
Q

Dental features of DI

A

Amber, grey to purplish discolouration
Pulpal obliteration
Relatively bulbous crowns, short narrow roots
Enamel may be lost following tooth eruption, exposing soft dentine which wears rapidly
Normal mantle dentine
Affects primary > permanent

36
Q

Bisphosphonates

A
  • osteonecrosis concern

- given to pxs with osteogenesis imperfecta

37
Q

Osteogenesis imperfecta

A 
Bone fragility 
Multiple fractures
Unstable vertebral column
Blue sclera
Progressive hearing loss
Bisphosphonates- risk of osteonecrosis 
Dentinal changes
38
Q

X-linked Vitamin-D resistant rickets

A 
Aka Hypophosphatemic rickets
Rachitic changes in long bones
Failure of distal tubular phosphate reabsorption
Short stature 
Bowing of legs
↓Serum phosphate, ↑Alkaline phosphatase
Large pulp chambers and elongated pulp horns
Abscesses in the absence of caries
39
Q

X-linked Vitamin-D resistant rickets dental symptoms

A

Large pulp chambers and elongated pulp horns

Abscesses in the absence of caries

40
Q

Achondroplasia

A

Sporadic mutation in 75% and AD
Defect in FGFR3 gene
Shortened arms and legs. Upper arms & thighs > than forearms and lower legs
Large head size, frontal bossing
Flattened nasal bridge
Crowding due to small jaws especially maxilla

41
Q

Achondroplasia dental symptoms

A

Crowding due to small jaws especially maxilla

42
Q

Cleidocranial dystosis

A 
AD (autosomal dominant)
Defective development of intramembraneous ossification
Short in stature
Delayed closure of sutures 
Absent clavicles
43
Q

Cleidocranial dystosis dental features

A 
Frontal and parietal bossing
Hypoplastic maxilla and zygoma
Multiple unerupted teeth
Multiple supernumeraries
Failure of eruption
-can be pulled down with gold chains
-overdentures
44
Q

Gigantism

A 
Overproduction of pituitary growth hormone
Usually due to adenoma
Before fusion of the epiphyses
-results in gigantism of whole skeleton
After fusion
-results in acromegaly
45
Q

Acromegaly

A 
Continued growth at mandibular condyle
Gross prognathism
Macroglossia
Spacing of dentition
Thickening of facial soft tissues
Overgrowth of hands and feet
46
Q

Radicular dentine dysplasia

A

Radicular pathology; aetiology unknown

47
Q

DI with IO (syndromic)

A

Collagenous proteins affected

Growth and Development (23 decks)

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