Random Syndromes

Question 1

Asherman’s syndrome

Answer 1

Intrauterine adhesions, often at scar tissue.
Commonly due to dilation and curettage, genital TB, gynae surgery.
S+S: Menstrual symptoms, Infertility, Placenta abnormalities

Question 2

Turner’s syndrome

Answer 2

Loss of X chromosome in females. 45X
Clinical features: lymphoedema, coarctation of aorta, short stature, web neck, poor hearing, amenorrhoea and no secondary sex characteristics, infertility.
Rx = growth hormone, supplement oestrogen.

Question 3

Erb’s palsy

Answer 3

Brachial plexus palsy from shoulder dystocia

Question 4

Klinefelter’s syndrome

Answer 4

XXY = Hypogonadism in males. Gynaecomastia, infertility. Rx = androgen therapy.

Question 5

Prader-willi syndrome

Answer 5

Loss of paternal proximal part of long arm in chromosome 15. Hypotonia, , delayed motor milestones, genital hypoplasia, hyperphagia, obese, short stature.

Question 6

Ret Syndrome

Answer 6

Neuro regression in 4 stages: Developmental arrest
Rapid regression
Pseudostationary
Late motor deterioration

Question 7

Werner syndrome

Answer 7

Premature aging