The amniotic band syndrome, a complex collection of asymmetric congenital anomalies, is almost certainly an underdiagnosed entity. No two cases are exactly alike. Two cases are reported, each of which exhibits craniofacial, visceral, body wall, and limb anomalies, the common types of defects seen in this syndrome. The literature is reviewed, and the most commonly accepted theory of pathogenesis...

Holoprosencephaly is a common developmental disorder in humans characterised by incomplete brain hemisphere separation and midface anomalies. The etiology of holoprosencephaly is heterogeneous with environmental and genetic causes, but for a majority of holoprosencephaly cases the genes associated with the pathogenesis could not be identified so far. Here we report the generation of knockout mi...

Abnormal orofacial functions in the period of growth and development can cause morphological anomalies of the craniofacial complex. The aim of this study was to determine the correlation between open mouth posture and morphology of craniofacial complex. The shape, size and relationships of skeletal parts of craniofacial complex were determined by analysis of lateral cephalograms in the sample o...

Pediatric mandibular distraction osteogenesis (MDO) has become a mainstay of treatment for patients with micrognathia and retrognathia. As craniofacial surgeons have gained experience with MDO, the technique has become a safe and durable means of mandibular lengthening that avoids the significant morbidity of conventional surgical treatments. The full impact of this technique has not yet been r...

Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of...

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...

This study aimed to verify the relationship between acute diarrhea provoked by rotavirus and different indicators of craniofacial malformations. In the Hospital for Rehabilitation of Craniofacial Anomalies, 8,724 children with cleft lip and cleft palate were divided into the following groups: acute diarrhea and infection due to rotavirus (C1, n = 62), acute diarrhea (C2, n = 153) and without ac...

Beare-Stevenson syndrome (BSS) (MIM#123790) is a rare disorder characterized by craniofacial anomalies and cutis gyrata associated with anogenital anomalies and prominent umbilical stump. There are few reports on the syndrome, and molecular analysis has revealed the involvement of two closely spaced mutations within the FGFR2 gene: c.1115C↷G (p.S372C) and c.1124C↷G (p.Y375C). We herein describe...

Introduction Amnion rupture in early pregnancy results in severe anomalies such as anencephaly, encephalocoele, exencephaly, acrania, facial clefts and absence of limbs (1,2). Most affected fetuses abort in the second trimester, are stillborn or die soon after birth (1,3).We report an infant with amnion rupture sequence, who survived for 9 weeks after birth. A Medline search failed to reveal do...