PATIENT Male, 4 months FINAL DIAGNOSIS 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...

Introduction Intraoral synechia is a rare congenital condition, generally associated with other maxillo-facial malformations. We present a neonate with congenital intraoral bilateral synechia without any other facial anomalies. Case Report In this paper, we present a 19-day-old male neonate with congenital intraoral bilateral synechia without any other facial anomalies. We review the literatu...

We present our experience in the contribution of three-dimensional ultrasonography, using the rendering mode, to the prenatal diagnosis of congenital anomalies including neurological defects (acrania/anencephaly, encephalocele, holoprosencephaly), facial anomalies (cyclopia and facial clefts), abdominal wall defects (omphalocele and gastroschisis) and defects of extremities (fetal muscle-skelet...

Hennekam syndrome is a rare autosomal recessive disorder resulting from malformation of the lymphatic system. The characteristic signs of Hennekam syndrome are lymphangiectasia, lymph edema, facial anomalies, and mental retardation. This is a case in which a patient presented with left-arm lymphedema, facial-feature anomalies, and multiple organ lymphangiectasia consistent with symptoms of Henn...

Congenital/fetal malformations are structural, functional, and/or biochemical molecular defects present at birth. Prevalence of congenital fetal anomalies in developing countries 2 to 3% newborns and about 94% severe birth defects. Acrania is a lethal malformation characterized by partial or complete absence flat bones cranial vault. Another anomaly, omphalocele, ventral defect the umbilical ri...

An omphalocele is one of the developmental anomalies of the abdominal wall. Incidence is 1.5-3 case per 10000 births. The abdominal viscera are surrounded by the Wharton jelly, peritoneum and amnion and contained in a translucent sac. The sac protrudes in the midline, through the umbilicus. Omphalocele is associated with additional anomalies in about 50-70% of cases. After the birth, defect is ...

Congenital anomaly of the oval window with an abnormal facial nerve course is an uncommon embryological defect, which is related to the underdevelopment of second branchial arch derivatives. Some treatments for improving hearing levels are available; these include hearing aids, vestibulotomy, neo-oval window formation, and stapes surgeries, including incudostapedotomy and malleostapedotomy. How...