Bosma Arhinia Microphthalmia and Cardiac Abnormalities: A Case Report
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چکیده
منابع مشابه
Congenital partial arhinia: a case report
Congenital arhinia is an extremely rare anomaly consisting of an absence of external nasal structures and nasal passages. Fewer than 30 cases have been reported. Patients with a familial absence of the nose have been reported, but the effects of genetic and maternal factors are unknown. Midface hypoplasia may accompany arhinia. Accompanying malformations are thought to be caused by an absent or...
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متن کاملCongenital arhinia: case report of a rare congenital anomaly.
Congenital absence of the nose or arhinia is a rare defect of embryogenesis often associated with other anomalies. Arhinia is a life-threatening condition that requires a highly skilled neonatal resuscitation team in the delivery room. The associated anomalies often have a significant effect on the immediate as well as long-term outcome of the neonate. This report presents a case of congenital ...
متن کاملHypogonadotropic hypogonadism presenting with arhinia: a case report
INTRODUCTION Arhinia, congenital absence of the nose, is a rare malformation. We present the third reported case of arhinia accompanied by hypogonadism and demonstrate that this is due to gonadotropin deficiency. CASE PRESENTATION A 13-year-old Caucasian boy with congenital arhinia presented for evaluation of delayed puberty and micropenis. We examined genes known to be associated with hypogo...
متن کاملCongenital arhinia: A rare case
Congenital arhinia or absence of nose is a rare condition with only 30 cases reported so far. We report a rare case and briefly review the literature.
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ژورنال
عنوان ژورنال: Clinical Medical Reviews and Case Reports
سال: 2020
ISSN: 2378-3656
DOI: 10.23937/2378-3656/1410311