CHROMOSOMAL DISORDERS

Click to edit Master subtitleDr.Amara style

Saeed. Jinnah postgraduate Medical Hospital R-II

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Orbital Placement Hypertelorism is defined by an increased interpupillary distance. Hypertelorism (right); normal (middle); hypotelorism (left).

Palpebral Fissure Length

Orbital Placement

Hypertelorism is defined by an increased interpupillary distance. Hypertelorism (right); normal (middle); hypotelorism (left).

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Palpebral Fissure Length

Often

this length is actually measures and plotted. Short (left); normal (middle); large (right)

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Palpebral Fissure Slant

This

varies greatly with ethnic origin. Up (left); normal (middle); down (right)

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Ear Placement

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Images A show normal ear position. Low set ears are positioned below the horizontal line as illustrated in B. Low-set ears are often posteriorly rotated, reflecting an arrest in the normal anterior rotation that occurred during fetal ear development

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Downs Syndrome
(synonyms:mongolism,trisomy21

Radiological Findings:
The new born Downs syndrome baby has a large ilium with a flat acetabular roof. hypoplasia of nasal bones, maxillae and sphenoid's and absent frontal sinuses. Orbital hypotelorism. ossification centers for the manubrium sterni b/w 1 and 4 years. :middle and distal phalanges 4/16/12

Brachycephaly,

Extra

Clinodactyly

 Other

visceral anomalies includes

Congenital

heart disease. Ventricular septal defect (VSD), atrial septal defect, or patent ductus arteriosus stenosis and atresia.

Dudenal

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Flat profile

Brachycephaly

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curved fifth finger

gap between hallux and second toe

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single palmar crease

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Broad and furrowing of tongue

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Mickey -Mouse Pelvis

Outward flaring of iliac wings ,sign in Downs syndrome

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Characteristics mental retardation stunted growth atypical fingerprints separation of the abdominal muscles flexible ligaments hypotonia Brachycephaly smaller genitalia eyelid crease shortened extremities oval palate low-set and rounded ear

Percentage[23] 100% 100% 90% 80% 80% 80% 75% 75% 75% 70% 69% 60%

Characteristics small teeth flattened nose clinodactyly umbilical hernia short neck shortened hands congenital heart disease single transverse palmar crease Macroglossia(larger tongue) epicanthal fold Strabismus Brushfield spots(iris)

Percentage[23] 60% 60% 52% 51% 50% 50% 45% 45% 43% 42% 40% 35%

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TURNERS SYNDROME
Radiological The

Findings:

average height of a woman with Turner syndrome, in the absence of growth hormone treatment, is 4 ft 7 in (140 cm). Density: of skeleton is reduced esp hands and feet. Sign:gross shortening of the fourth metacarpal. medial tibial condyle is depressed and beak-like,the medial femoral condyle may project downward.
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Bone

Metacarpal The

 Pelvic

inlet in female is android. and Scolosis.

Kyphosis

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TURNERS SYNDROME

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Turner syndrome - hand

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Bilateral Blount disease

Radiograph in a 2.5year-old girl with bowing, which is more severe on the left. The proximal left tibia shows a medial beaking deformity.

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Noonan syndrome

Differentials of short 4th metacarpal Bone

Turners

syndrome.

Psudohypoparathyroidism Psudopsudohypoparathyroidism. Sickle

cell disease with secondary infarction.

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Condition

Appearanc PTHleve Calcium e l

Imprinting

Hypoparathyroidism Skeletal defects Pseudopseu Skeletal dohypopara defects thyroidism Pseudopseu Skeletal dohypopara defects thyroidism

normal low

Not applicable

gene defect normal normal[4] from father gene defect normal normal[4] from father
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THANK YOU

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