introduction: nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. the cause of the abnormal development of the pharyngeal arches in nager syndrome is unknown. it is also unclear why affected individuals have bone abnormalities in their arms and legs. nager syndrome is thought to have an autosomal recessive inheritan...

regardless of severity, earlier intervention to correct hearing loss in children improves speech development and conversational abilities. a cross-sectional study was performed on 230 neonates who were at risk of hearing loss in tehran university of medical sciences hospitals between september 2000 and february 2002. hearing was examined before the 3rd month by auditory brainstem responses (abr...

Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inherita...

INTRODUCTION Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing na increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenita...

Basal encephalocele is a rare craniofacial anomaly. In the present paper we report a 10-year-old boy presented with cleft palate, congenital nystagmus, and hypertelorism. During preoperative evaluation for cleft palate repair, a pulsatile mass was detected in the pharynx. Magnetic resonance imaging showed sphenoethmoidal type of basal encephalocele and agenesis of corpus callosum. Neurosurgical...

basal encephalocele is a rare craniofacial anomaly. in the present paper we report a 10-year-old boy presented with cleft palate, congenital nystagmus, and hypertelorism. during preoperative evaluation for cleft palate repair, a pulsatile mass was detected in the pharynx. magnetic resonance imaging showed sphenoethmoidal type of basal encephalocele and agenesis of corpus callosum. neurosurgical...

Cardiofaciocutaneous syndrome (CFC) type 4 is a rare, phenotypically diverse, autosomal dominant, multiple congenital anomaly disorder, that characterized by distinctive set of dysmorphic craniofacial features, heart disease, and cutaneous abnormalities.

INTRODUCTION Opitz trigonocephaly C syndrome (OTCS) is a rare malformation syndrome with the following features: synostosis of metopic suture, craniofacial abnormalities, severe mental retardation and a multitude of pathological findings affecting almost every organ system. OTCS is associated with a high mortality rate. CASE PRESENTATION We describe the case of a Caucasian male baby who died ...