Disorders of growth and development in children Flashcards

Question

Field complexes

Answer 1

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

Answer 2

Down's Syndrome - large, fissured tongue - periodontal disease - hypodontia - microdontia - enamel defects - class 3 malocclusion due to maxillary retrognathia

Answer 3

``` breathing difficulties feeding difficulties cleft palate speech therapy dental care possible learning disability ```

Answer 4

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

Answer 5

``` 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 & behavioural problems Heart defects Susceptible to loud noise Renal calculi -angel like faces ```

Answer 6

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

Answer 7

Dentinogenesis imperfecta | Amelogenesis imperfecta

Answer 8

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

Answer 9

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

Answer 10

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)

Answer 11

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

Answer 12

- osteonecrosis concern | - given to pxs with osteogenesis imperfecta

Answer 13

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

Answer 14

``` 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 ```

Answer 15

Large pulp chambers and elongated pulp horns | Abscesses in the absence of caries

Answer 16

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

Answer 17

Crowding due to small jaws especially maxilla

Answer 18

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

Answer 19

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

Answer 20

``` 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 ```

Answer 21

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

Answer 22

Radicular pathology; aetiology unknown

Answer 23

Collagenous proteins affected