Noonan's Syndrome
1968; American Medical Association; Volume: 116; Issue: 4 Linguagem: Inglês
10.1001/archpedi.1968.02100020363003
ISSN2374-3018
Autores Tópico(s)Connective tissue disorders research
ResumoTHIS report concerns a particularly interesting patient with a complex dysmorphogenetic syndrome and an elevated level of serum alkaline phosphatase who developed a malignant schwannoma. Report of a Case The patient (No. 501867, born Dec 22, 1951) was first admitted to the University of Wisconsin Hospitals at the age of 5 years for dyspnea on exertion and cyanosis. The patient was delivered by caesarean section due to placenta previa after a full-term pregnancy. His birth weight was 3,345 gm (7 lb 6 ounces); his birth length is unknown. During the first year of life, he failed to gain weight satisfactorily; a cardiac murmur was first heard around the age of 12 months. He became cyanotic primarily during breath-holding spells. His penis had been noted to be large since birth. At the time of his first admission to the University Hospitals, he appeared to be a small, pale child, measuring 104
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