Question

Webbed neck, short stature, low posterior hairline. Diagnosis-

• A. Turner syndrome
• B. Downs syndrome
• C. Patau syndrome
• D. Edwards syndrome

Hint:

Think about the chromosomal condition in females associated with webbed neck and short stature.

Answer 1

The Correct Option is A

Step 1: Identify the classic triad.
Webbed neck, short stature, and low posterior hairline are the hallmark features of Turner syndrome (45,X).

Step 2: Understand Turner syndrome phenotype.
Turner syndrome (45,X or 45,XO) is a chromosomal condition affecting females. Classic features include: webbed neck (pterygium colli), short stature, low posterior hairline, shield chest with widely spaced nipples, cubitus valgus, Madelung deformity of wrist, congenital lymphoedema of hands and feet in newborns, and primary amenorrhoea.

Step 3: Eliminate distractors.
Down syndrome (Trisomy 21): upslanting palpebral fissures, epicanthal folds, single palmar crease, Brushfield spots, intellectual disability -- no webbed neck.
Patau syndrome (Trisomy 13): holoprosencephaly, cleft lip/palate, polydactyly, microcephaly.
Edwards syndrome (Trisomy 18): rocker-bottom feet, overlapping fingers (index over third), micrognathia, clenched fists -- no webbed neck.

Step 4: Confirm answer.
Only Turner syndrome presents with webbed neck + short stature + low posterior hairline.