A child is brought to you. On examination he has a broad nose with anteveed nostrils. You also note that he has clinodactyly of 5th finger and "shawl scrotum". What is the MOST probable diagnosis? Note:- He is sho for his age.
Aarskog syndrome - is associated with round face, small broad nose with anteveed nostrils, long philtrum and clinodactyly of 5th finger. It is associated with a fold of scrotal skin encircling the base of phallus (shawl scrotum). Good to know: Rothmund - Thomson syndrome - is associated with photosensitivity, alopecia, cataract, hypogonadism and sho stature. Seckel syndrome - is associated with microcephaly, facial hypoplasia, low set malformed ears and mental retardation. Note:- All the conditions mentioned above are associated with sho stature. Ref: Meharban Singh, Edition 3, Page - 85.
Laron syndrome
Aarskog syndrome
Rothmund - Thomson syndrome
Seckel syndrome