case presentation this case concerns a 3-year-old girl whose medical history includes an acid attack suffered 3 years ago. she began treatment for the restoration of her scalp hair, but five weeks later, she presented at our clinic with a high-grade fever and infectious discharge from the commissure of the skull following a scalp expansion graft. microbiologic and radiologic work-ups were condu...

Successful treatment of any orthodontic problem depends on an appropriate diagnosis of its etiology. It is well known that the genetics, as well as environmental factors, play an important role on the etiology of skeletal anomalies. Recent studies and advances in genetic sciences allowed the orthodontists to better understand the effects of genetics on the etiology of dentofacial characteristic...

The purpose of this study was to determine rates of divorce in parents of children with various types of craniofacial anomalies and to analyze possible confounding factors. A 29-question survey was sent to parents of all children evaluated in the Craniofacial Centre between 1992 and 1997. Parents were questioned regarding pre- and postnatal marital stability, whether the child's facial anomaly ...

provided the original work is properly cited. CC Cleft palate is the most common craniofacial anomaly, with an incidence of 1 in 700 live births. Primary corrective palatal surgery is often performed between 6 and 12 months. Although cleft palate closure may result in upper airway obstruction, tracheostomy is a rare complication after repair of cleft palate in patients without any other craniof...

Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are sporadic. We investigated the disorder in a large pedigree with five affected individuals spanning eight meioses. Whole-exome sequencing results indicated the absence of a pathogenic coding point mutation. A genome-wide survey of segmental variatio...

+ Equal contribution * To whom correspondence should be addressed ([email protected]). CC-BY 4.0 International license peer-reviewed) is the author/funder. It is made available under a The copyright holder for this preprint (which was not. ABSTRACT Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are ...

Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies, neurological and behavioral disorders. SMS is caused by a deletion in region 17p11.2, which includes the RAI1 gene (90% of cases), or by point mutation in the RAI1 gene (10% of cases). Laboratory diagnosis is through cytogenetic analysis by GTG banding and molecular cytogenetic analysis b...

We ascertained three different families affected with oto-dental syndrome, a rare but severe autosomal-dominant craniofacial anomaly. All affected patients had the unique phenotype of grossly enlarged molar teeth (globodontia) segregating with a high-frequency sensorineural hearing loss. In addition, ocular coloboma segregated with disease in one family (oculo-oto-dental syndrome). A genome-wid...

Holoprosencephaly (HPE) is a heterogeneous craniofacial and neural developmental anomaly characterized in its most severe form by the failure of the forebrain to divide. In humans, HPE is associated with disruption of Sonic hedgehog and Nodal signaling pathways, but the role of other signaling pathways has not yet been determined. In this study, we analyzed mice which, due to the lack of the Bm...

Background: Cleft lip and/or palate is the most common craniofacial congenital anomaly encountered by plastic surgeon. Both reconstruction and outcome assessment are challenging. This study aimed to assess of unilateral cleft repair in Surabaya CLP Center.Methods: All patients who underwent 2017 were included study. Those without complete photographs at minimally 52 weeks after surgery excluded...