A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)].

Helen Stromiedel, Chantal Van Quekelberghe, Gökhan Yigit, Ammar Al Naimi, Franz Bahlmann, Robert Sader, Marina Guchlerner, Marc Lüchtenberg, Kay Latta, Chie Hee Cho, Bernd Wollnik, Steffen Kunzmann

Laryngo- rhino- otologie 2021 Apr

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The rare clinical picture of nasal agenesis is to be presented on the basis of a female newborn. Intrauterine growth restriction with polyhydramnios and midface hypoplasia were noted during pregnancy. Primary cesarean section at 38 + 4 weeks' gestation was done. Airway management was achieved by splinting through a Mayo tube which was subsequently replaced by a pharyngeal endotracheal tube without signs of respiratory failure. In addition to a complete nasal agenesis, hypertelorism, a Gothic palate, bilateral microphthalmus, and iris coloboma were found. Ultrasound scans of cerebral structures were normal. An orogastric tube was placed, and drinking training and a special pacifier improved coordination and drinking performance. We suspected a case of Bosma arhinia microphthalmia syndrome (BAMS). The structural maintenance of chromosomes flexible hinge domain (SMCHD) containing 1 gene plays a key role in the embryogenesis of the human nose and is known for mutations in BAMS. A heterozygous de novo mutation in the SMCHD1 gene (c.1043A > G; pHis348Arg) was confirmed by molecular genetic analysis. Initial stabilization after birth is often a challenge in patients with nasal agenesis. They are often intubated immediately postpartum and electively tracheotomized. In the absence of respiratory problems and appropriate growth, however, there is no urgent indication for early plastic surgical treatment, given the inherent risks of sepsis and growth disorders in the midface. Thieme. All rights reserved.

Citation

Helen Stromiedel, Chantal Van Quekelberghe, Gökhan Yigit, Ammar Al Naimi, Franz Bahlmann, Robert Sader, Marina Guchlerner, Marc Lüchtenberg, Kay Latta, Chie Hee Cho, Bernd Wollnik, Steffen Kunzmann. A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)]. Laryngo- rhino- otologie. 2021 Apr;100(4):294-296