Noonan syndrome

A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.

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Concluded Case

Short Webbed neck , wide spaced nipple , limb abnormalities - TURNER OR NOONAN SYNDROME Awaiting karyotyping results..

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Concluded answer

Short neck+ Widely placed nipples + CTEV +. Umbilical hernia + Over riding thumb over index finger + Search for cardiac and renal anomalies Adv karyotyping. It may be a case of SYNDROMIC BABY. To which syndrome it belongs may be infer...


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