Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome

• প্রধান লেখক: Surasak Puvabanditsin (লেখক), Rosanna Abellar (লেখক), Adaora Madubuko (লেখক), Rajeev Mehta (লেখক), Lauren Walzer (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Hindawi Limited, 2018-01-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying c.184T>G (p.Tyr62Asp) pathogenic v...