BACKGROUND: Bosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system developmental disorder characterized by severe hypoplasia of the nose and eyes, and reproductive system defects. BAMS is extremely rare in the world and no cases have been reported in Chinese population so far. Pathogenic variants in the SMCHD1 gene (MIM614982) cause BAMS, while the underlying molecular mechanisms requires further investigation.
METHODS: In this study, a Chinese girl who has suffered from congenital absence of nose and microphthalmia was enrolled and subsequently submitted to a comprehensive clinical and genetic evaluation. Whole-exome sequencing (WES) was employed to identify the genetic entity of thisgirl. A heterozygous pathogenic variant, NM_015295, c.1025G > C; p. (Trp342Ser) of SMCHD1 was identified. By performing very detailed physical and genetic examinations, the patient was diagnosed as BAMS.
CONCLUSIONS: This report is the first description of a variant in SMCHD1 in a Chinese patient affected with BAMS.Our study not only furnished valuable genetic data for counseling of BAMS, but also confirmed the diagnosis of BAMS, which may help the management and prognosis for this patient.

Congenital arhinia is the absence of an external nose, nasal cavities and olfactory apparatus, and extremely rare. It occurs during the early gestational stage and may be a result of maldevelopment of the paired nasal placodes embryologically. Total arhinia is often associated with other craniofacial abnormalities. Early detection may be helpful for the parents and physician. However, fewer than 40 patients with arhinia have been reported so far, and most of them were diagnosed after birth. To our knowledge, this is the first case diagnosed by fetal MRI during the second trimester of pregnancy, and confirmed by pathological examination.

METHODS: Male, 4 months
METHODS: Congenital arhynia Symptoms: Absence of the nose Medication: - Clinical Procedure: - Specialty: Pediatrics and Noenatology • Genetics.
OBJECTIVE: Congenital defects.
BACKGROUND: Congenital nasal absence (arhinia) is an extremely rare malformation. Arhinia causes severe airway obstruction and poor feeding in the affected neonate. There is an association with other facial anomalies, especially defects of the eyes, ears, palate, and midline defects.
METHODS: A full-term boy was born via an uncomplicated vaginal delivery. The mother was 40 years old and had a normal pregnancy. The mother had 4 previous uncomplicated pregnancies. There was no history of drug use during pregnancy.
CONCLUSIONS: Congenital arhinia is a rare defect of embryogenesis, often associated with other anomalies that significantly influence the immediate and long-term outcomes of the neonate. It is a potentially life-threatening condition and requires the presence of a highly skilled neonatal resuscitation team at the time of delivery. Parental counseling is vital and a multidisciplinary team approach is required to optimize neonatal outcome.