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Showing posts with label tallstature. Show all posts
Showing posts with label tallstature. Show all posts

What are the clinical features of marfan's syndrome ?

Marfan syndrome is basically due the defect in collagen cross-linking  that may be responsible for abnormalities in supporting tissue. It is an autosomal dominant disease.

It is a syndrome comprising a tetrad of features
  1. Familial (autosomal dominant)
  2. Lens dislocation (upward)
  3. Great vessel (aortic or pulmonary) dilatation and  dissection
  4. Long tubular bones.
The arm span is 7.5 cm > height
Lower segment  5cm more than the upper segment

The abnormalities in marfans syndrome are the following
1. Skeletal abnormalities
  • Tall and thin (asthenic individual)
  • Crown to heel height is above average (ie. tall stature).
  • Upper segment : Lower segment = < 0.9
  • Arm-span > height
  • The arm span is more than the height of the patient by at least 5 cm.
b. Skull—Dolicocephalus  is long and narrow facies
c. High arched palate
d.Chest and spine—Pectus carinatum, pectus excavatum, straight back syndrome, kyphosis, scoliosis
e. Limbs—Long thin limbs and long thin fingers(Arachnodactyly)
Metacarpal index more than 8.4 this is calculated by taking the length of 4 metacarpals divided by its width at its midpoint then values are averaged
f. Joint hypermobility and ligament laxity
Hyperextensible joints (Steinberg’s sign or thumb sign - in which the thumb when opposed across the palm extends beyond the outer border of the palm).
Wrist sign
To elicit it the patients  is asked  to enclose his wrist with his thumb and little finger of hand then these digits will overlap
g. Feet—Pes planus, pes cavus, hallux valgus.
B.Subluxation or dislocation of lens upwards and outwards (look for irldodoncsls).

Other Ocular Defects are the following
  • Microcornea
  • Cataract
  • Strabismus
  • Myopia
  • Retinal detachment
  • Iridodonesis.
  • Cardiovascular abnormality
  • Cardiac Defects
  • Aneurysm of aorta
  • Dissection of aorta
  • Sinus of Valsalva aneurysm
  • Aortic regurgitation
  • Mitral or tricuspid valve prolapse syndrome
  • Atrial septal defect (ostium secundum)
  • Ventricular septal defect
  • Dilatation of the pulmonary artery..
Mental retardation is not seen In Marfans syndrome

What is Tall stature ?

Tall stature is defined as the height of the person more than  97th percentile of normal population of same age and sex.
Common causes for tall stature are the following
  • Constitutional
  • Racial 
  • Marfan's syndrome
  • Gigantism and acromegaly
  • Disorder of amino acid metabolism
  • Supermales (XYY) and superfemales (XXX).
How to differentiate tall stature by body ratio ?
Upper segment to lower segment ratio of our body is approximately
1.7:1 at birth 
By the age of 10 years the ratio becomes I : I 
it is approximately 0 .8: 1 in adulis
This is beause the legs grow more rapidly than the trunk 
Tall stature is classified as proportionate and disproportionate according to the uppersegment and lower segment ratio
1.Upper segment = Lower segment is seen in proportionate tall stature:
  • Constitutional, and
  • Pituitary causes.
2.Lower segment > Upper segment is seen in disproportionate tall stature
  • Marfan's syndrome.
  • Klinefelter’s syndrome,
  • Hypogonadism
  • Homocyslinuria.
3.Upper segment > Lower segment is found in 
  • Precocious puberty.
  • Adrenal cortical tumour.
What are the clinical associations in tall stature?
Accident proneness, isolated signs of virilism' s, signs of early puberty and rarely symptoms of hvperthyroidism
You should always examine the testis, palate (high-arched), spine and CVS (for Aortic regurgitation) in tall stature

What is Gigantism ?

Gigantism is said to be present in an individual, when his or her  height exceeds six feet, six inches.
Types of Gigantism
1. Hereditary: Primary or genetic.In this type the body is perfectly proportioned. They are normal mentally, physically and sexually.
2. Endocrine gigantism: The following types are seen.
a. Hyperpituitary gigantism: They are well-proportioned and have good physical and sexual development.
b. Eunuchoid gigantism: They are tall and long limbed individuals with infantile sex organs, e.g.Klinefelter's syndrome.

Cardinal features of Homocystinuria

Basic abnormality is reduced activity of enzyme cystathionine betasynthatase
Autosomal recessive inheritance is seen 
Mental retardation is present
There is upward lenticular dislocation
Thrombotic episode can occur
Patients are tall statured

What are the diagnostic points in klinefelter's syndrome?

Following are the diagnostic clue to klinefelters syndrome
1.Tall stature (due to hypogonadism).
2.Lower segment > upper segment of the body. Crown to pubis length < pubis lo heel
3. Gynaecomastia with loss of secondary sexual characters         
4.Phenotypically male with small, firm testis.
5.Mental subnormality.
6.Azoospermia (sterility) wilh elevated levels of plasma and urinary gonadotropinins
7.Chromatin barr body is present in buccal smear. Chromosal pattern is 47XXY in klinefelters syndrome