Mohamed M.

lsmail case scenario

Genetics

A 3 day old female infant is referred from a community hospital for bilious vomiting
and a heart murmur. The baby was born at 37 weeks gestation to a 39 year old
women. On examination, he appears jaundiced and has a flat facial profile, short
upward slanting, flat nasal bridge with epicanthal folds; a small mouth with
protruding tongue and single palmer crease, A loud holosystolic murmur is heard
over the chest. Generalized hypotonia is present
What is your diagnosis: Down syndrome mostly non-disjunction with VSD
Mention possible investigations and treatment

A 1-3 year old girl presents to your clinic for evaluation of short stature. The patient
has not yet attained menarche and her mother reports no breast development. She
has been wellwith no chronic medical problems. Her mother is 173 cm and had
menarche at age of 12 .Her father is 185 cm and started shaving at age of L5 years
On examination her height is L20 cm less than 5th centile she is pre pubertal, has a
webbed neck and widely spaced nipples the carrying angle is increased
What is your diagnosis: a case of turner syndrome?
Mention possible investigations and treatment

Allergic disorders
A L2 years old boy is brought to the emergency department after being stung by a

bee .He initially complained of localized pain and swelling . Fifteen minutes later, he
began to complain of shortness of breath and wheezed. He felt weak and dizzy
On examination, he is drowsy and pale, and in mild respiratory distress, he has
generalized urticaria. His lung examination shows mild wheezing with minima
retractions
Insect bite hypersensitivity - anaphylaxis

-122-