Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Sep 14, 2012.
What is your medical diagnosis ?
Answer : Turner Syndrome
Related Self Assessment Question
Patients with genetic disorders or those affected by specific teratogens in utero, typically have certain characteristic dysmorphic features. Match this physical description with the genetic or teratogenic abnormality: a 14-year-old girl with short stature, thick neck, minimal pubertal development, repaired coarctation of the aorta, and normal intelligence.
A. Trisomy 21 (Down syndrome)
B. Trisomy 18 (Edwards syndrome)
C. Holt-Oram syndrome
D. Diabetic embryopathy
E. Fetal alcohol syndrome
F. Turner syndrome
G. Ehlers-Danlos syndrome
Ehlers-Danlos syndrome is characterized by thin fragile skin, easy bruising, and joint hypermobility. Mitral valve prolapse has been reported. There are several different variants. One of these variants, the vascular form (type 3), can result in rupture of the aorta.
Trisomy 21, also known as Down syndrome, is easily recognized in older children and adults, but may be more difficult to diagnose in infancy. Characteristics include upslanting palpebral fissures with epicanthal folds, hypotonia, small ears, and a single transverse palmar crease. About half of patients with Down syndrome will have some type of cardiac abnormality.
Holt-Oram syndrome is characterized by abnormalities in the upper extremities, hypoplastic radii, thumb abnormalities, and cardiac anomalies. Occasionally the pectoralis major muscle is missing in Holt-Oram, and as such it needs to be considered when discussing Poland syndrome.
Mothers who consume alcohol during pregnancy put their infant at risk of fetal alcohol syndrome. Key features include growth retardation, short palpebral features, short nose, thin upper lip, mental retardation, heart defects, and behavioral abnormalities.
Turner syndrome (XO) is characterized by short stature, low ears, a wide chest with widely spaced nipples, broad based neck, low hairline, extremity edema, and congenital heart defects (typically coarctation or bicuspid aortic valve). Intelligence is normal.
Trisomy 18 (Edwards syndrome) babies are small with low-set ears, a prominent occiput, a short sternum, a closed hand with overlapping fingers, cardiac defects, rocker-bottom (rounded) feet, cleft lip and/or palate, and renal and genital abnormalities. Mortality is 50% in the first week and 90% in the first year.
Infants born to diabetic mothers are frequently macrosomic and may become hypoglycemic. However, they can have many other problems as well, including cardiac septal hypertrophy, congenital heart disease, caudal regression, vertebral defects, and a single umbilical artery.
The answer is F.
It's only lymphedema shown in the picture...........
yes, but the child's hand is turned towards the chest ( which makes it a special case )...so i guess it is turner's lymphedema
sorry guys just kidding
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