Question of the Week

Question :
Posted On : 09 Oct 2015
Hi, good day. i would like for somebody help me on my patient and I cannot diagnose the congenital dysmorphic disorder of the patient and I can send an image of the patient.

13-year-old female patient. In the patient’s father’s side, a nephew and a niece had a consanguineous marriage which produced 2 offspring allegedly with the same facies as the patient.

Developmental milestones were delayed.
Pertinent pe: highly arched eyebrows, upward-slanted palpebral fissures, flattened nose bridge, low set ears and widely spaced eyes, short stature. Presence of nodule on right parietooccipital area, firm, nontender and immobile. marked splenomegaly and hepatomegaly

My current impression are:
Upper GI bleeding probably secondary to Esophageal Varices
T, C Liver Cirrchosis
Congenital Disorder

Thank you very much in advance.
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Expert Answer :
Please send all relevant images for a confirmatory response
Answer Discussion :
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