Which is the most applicable diagnosis for the following children.
A. Down's syndrome
B. Turner's syndrome
C. Noonan's syndrome
D. Klinefelter's syndrome
E. Treacher-Collins syndrome
F. Marfan's syndrome
G. Sotos syndrome
H. Klippel-feil syndrome
I. Laurence Moon Biedl syndrome
J. MCune Albright syndrome
1) A 3-year-old boy with delayed motor development is reviewed regularly in the child development clinic. He attends for routine annual blood tests to check his thyroid function.
2) A 16-year-old girl is being investigated for delayed menarche and
short stature. In her notes it is recorded that she had
swollen feet at birth but she was lost to follow-up.
3) A girl of 6 years has been found to have hypertension and
coarctation of the aorta. She has been referred to the growth clinic because of short stature.
Don’t look at the answer before answering
Answer
1) A. Down's syndrome
Note:
Children with Down’s syndrome are screened yearly for the development of hypothyroidism. They should also be regularly assessed for the development of myopia and hearing loss. These children have a
predisposition to acute lymphoblastic leukaemia (ALL), Alzheimer’s-like dementia and Atlanto-axial subluxation.
2) B. Turner's syndrome
Note:
A karyotype should be performed in all girls presenting in this way. Pedal lymphoedema at birth is a known presentation. Other associated features include coarctation of the aorta, infertility, hypothyroidism and horse shoe kidney.
3) B. Turner's syndrome
Note:
A karyotype should be performed in all girls presenting in this way. Pedal lymphoedema at birth is a known presentation. Other associated features include coarctation of the aorta, infertility, hypothyroidism and horse shoe kidney.
