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TAS Growth And Puberty ✅ > Syndromic Short Stature ✅ > Flashcards

Syndromic Short Stature ✅ Flashcards

1
Q

What are the most common syndromic causes of short stature?

A
  • Russell-Silver syndrome
  • Fetal alcohol spectrum disorder
  • Turner’s syndrome
  • Noonan’s syndrome
  • Skeletal dysplasias
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2
Q

What kind of genetic disease is Russell-Silver syndrome?

A

Imprinting disease

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3
Q

What is the genetic cause of Russell-Silver syndrome?

A

Maternal uniparental disomy of chromosome 7

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4
Q

What are imprinting disorders asssociated with?

A

Assisted reproductive techniques

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5
Q

What do imprinting disorders often cause?

A

Abnormalities of growth

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6
Q

What is Russell-Silver syndrome characterised by?

A
  • Intrauterine growth restriction
  • Increased risk of hypoglycaemia
  • Sweating
  • Asymmetry (one side of the body being shorter than the other)
  • Short stature with failure to catch up growth
  • Thinness
  • Triangular shaped face with small pointed chin and clinodactyly
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7
Q

What does treatment of Russell-Silver syndrome involve?

A

Optimal dietary support and for some, GH therapy

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8
Q

What problems can alcohol exposure in utero cause?

A
  • Impaired growth
  • Brain damage leading to poor concentration, behaviour and learning difficulties
  • Characteristic facial appearance of microcephalic, flat mid-face, low-set ears, and micrognathia
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9
Q

What is the genetic cause of Turner’s syndrome?

A

Loss or abnormality of one X chromosome

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10
Q

What is the incidence of Turners syndrome?

A

1 in 2500 girls

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11
Q

Why is the phenotype of Turners syndrome fairly mild for such as major chromosomal anomaly?

A

Reflects partial inactivation of the second X chromosome from early fetal life

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12
Q

What % of conceptions with Turners syndrome result in miscarriage or stillbirth?

A

99%

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13
Q

What are the characteristic features of Turner’s syndrome?

A
  • Skeletal dysplasia causing short stature
  • Short 4th and 5th metacarpals
  • Cubitus values
  • Micrognathia
  • Ovarian failure leading to pubertal failure and infertility
  • Lymphoedema
  • Neck webbing
  • Low hairline and increased naevi
  • Congenital heart disease
  • Wide spaced nipples
  • Madelung deformity
  • Middle ear problems
  • Renal anomalies
  • Specific learning difficulties related to numeracy and visuospatial tasks
  • Social vulnerability
  • Increased risk of autoimmune and inflammatory disease
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14
Q

What congenital heart disease is particularly common in Turner’s syndrome?

A

Coarctation of the aorta

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15
Q

What is Madelung deformity?

A

A focal dysplasia of the distal radial physis

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16
Q

Don’t understand this so work it out later

A

About 1/3 of the genes on the short arm (Xp) are unsilenced, including the short stature homeobox (SHOX)

17
Q

Spare card

A

Spare card

18
Q

How is the presentation of Turner’s syndrome variable?

A

Many children with Turner’s syndrome have few abnormal findings

19
Q

What is the result of many children with Turner’s syndrome having few abnormal findings?

A

Karyotyping is essential in any girl with impaired growth of unknown aetiology

20
Q

What is the treatment of Turners syndrome?

A
  • GH therapy to improve growth
  • Oestrogen induction of puberty
  • Specific monitoring for cardiac, renal, autoimmune, and hearing abnormalities
21
Q

What is the incidence of Noonan’s syndrome?

A

1 in 1000

22
Q

What causes Noonan’s syndrome?

A

Mutations of genes involved in the RAS/MAPK signalling pathway

23
Q

What genes involved in the RAS/MAPK signalling pathway are affected in Noonan’s syndrome?

A
  • PTPN11
  • SOS1
  • KRAS
  • RAF-1
24
Q

What is the inheritance of Noonan’s syndrome?

A

Autosomal dominant

25
Q

What are the clinical features of Noonans syndrome?

A
  • Short stature
  • Scoliosis
  • Low-set ears
  • Ptosis
  • Pectus excavatum
  • Cubitus values
  • Pulmonary stenosis
  • Cryptorchidism and delayed puberty
  • Lymphoedema
  • Mild educational difficulties
  • Coagulation defect
26
Q

What does the impact on growth of skeletal dysplasia depend on?

A

The part of the skeleton that is affected

27
Q

What can skeletal dysplasias cause?

A

Skeletal disproportion

28
Q

What needs to be done as a result of skeletal dysplasias causing skeletal disproportion?

A

Measurement and comparison of sitting and standing heights

29
Q

What is the inheritance patterns of many skeletal dysplasias?

A

Autosomal dominant

30
Q

Give 2 examples of skeletal dysplasias

A
  • Achondroplasia

- Hypochondroplasia

31
Q

What do achondroplasia and hypochondroplasia cause?

A

Rhizomelic short stature

32
Q

What is meant by rhizomelic?

A

Shortening of the proximal limb segment

33
Q

What is often the genetic cause of achondroplasia/hypochondroplasia?

A

Mutations of the fibroblast growth factor factor receptor 3 (FGFR3) gene

34
Q

How do mutations of the FGFR3 gene cause achondroplasia/hypochondroplasia?

A

The mutatated receptor is constitutionally active and inhibits cartilage formation and thus bone growth

35
Q

What does spondyloepiphyseal dysplasia lead to?

A

Markedly impaired trunk growth and less severely affected short limbs

36
Q

What will be found on examination in spondyloepiphyseal dysplasia?

A

Disproportionately short sitting height

37
Q

What treatment may be used in children with short-limbed forms of short stature?

A

Height may be improved by leg-lengthening surgery

TAS Growth And Puberty ✅ (12 decks)

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