Extract
This case report describes an Italian female who was born at full term via Caesarean delivery, performed for breech presentation. She was the first child of healthy, unrelated parents. At birth, she weighed 2600 g (<3rd centile; −2 sd) and measured 45 cm in length (<3rd centile; −2 sd). Psychomotor development was normal for her age. The recommended immunisation schedule was administered. Newborn screening tests (hip ultrasound and acoustic reflexes) as well as echocardiography were normal. There was no known maternal exposure to teratogens or infections. The family history was unremarkable, except for retinitis pigmentosa and hypothyroidism (in the mother).
Abstract
Can you diagnose this child with minor pulmonary malformations and recurrent pulmonary symptoms? http://ow.ly/6zQB30jHZAP
Footnotes
Author contributions: S. Manti and G.F. Parisi wrote the first draft; L. Tardino wrote the second draft; M. Cutrupi performed genetic counselling; C. Salpietro and C. Cuppari performed the immunology test; O. Sacco performed the bronchoscopy; and S. Leonardi conceived the study and revised the manuscript for final submission.
Conflict of interest: None declared.
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