Midline Facial Cleft Research Articles

O.090 Intraoral distraction osteogenesis to lengthen the ascending ramus. Experiences with seven patients

Anomalies of the face may occur in its lower or middle segments. Anomalies of the lower face generally involve the derivatives of the branchial apparatus and therefore manifest as defects in the mandible, pinnae, external auditory canals, and portions of the middle ears. These anomalies are occasionally isolated, but most of them occur in combination with systemic syndromes. These anomalies generally do not occur with respiratory compromise. Anomalies of the midface may extend from the upper lip to the forehead, reflecting the complex embryology of this region. Most of these deformities are isolated, but some patients with facial clefts, notably the midline cleft syndrome and holoprosencephaly, have anomalies in other sites. This is important because these patients will require detailed imaging of the face and brain. Anomalies of the midface tend to involve the nose and its air-conducting passages. We prefer to divide these anomalies into those with and without respiratory obstruction. The most common anomalies that result in airway compromise include posterior choanal stenoses and atresias, bilateral cysts (mucoceles) of the distal lacrimal ducts, and stenosis of the pyriform (anterior) nasal aperture. These may be optimally evaluated with computed tomography (CT) and generally require immediate treatment to ensure adequate ventilation. Rare nasal anomalies that also result in airway obstruction are agenesis of the pharynx, agenesis of the nose, and hypoplasia of the nasal alae. Agenesis of the nasopharynx and nose are complex anomalies that require both CT and magnetic resonance imaging (MRI). The diagnosis of hypoplasia of the nasal alae is a clinical one; these anomalies do not require imaging studies. Besides facial clefts, anomalies of the nose without respiratory obstruction tend to be centered around the nasofrontal region. This is the site of the most common sincipital encephaloceles. Patients with frontonasal and nasoethmoidal encephaloceles require both CT and MRI. In these patients, imaging of the brain is essential. Patients with suspected extranasal, intranasal, or mixed heterotopia may need images with CT or MRI or both. The last of the anomalies in this region is the presence of ectodermlined tracts and sinuses that may or may not be accompanied with masses. When these masses are located in the midline, they are almost always dermoids, whereas masses located off-midline may also be epidermoids. This latter group of anomalies is important because of its potential communication with the intracranial contents and the possibility of infection. Adequate imaging may require both CT and MRI. Midline facial clefts may be divided into common and complex. Common clefts represent the great majority and are isolated cosmetic defects that generally do not require imaging studies. Complex facial clefts with hypertelorism are almost always a part of the holoprosencephalies; imaging of the brain is more important than is imaging of the cleft proper. The studies should be obtained with MRI. Complex facial clefts in the presence of hypertelorism are most likely related to the midline cleft syndromes. This very rare and intricate group of disorders is generally accompanied with severe brain and eye anomalies. Imaging of these patients is better performed with both CT and MRI. We review common and uncommon facial anomalies. We have tried to approach them according to their clinical importance by dividing them into those with and without airway compromise.

Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski−/− mice

Experiments involving overexpression of Ski have suggested that this gene is involved in neural tube development and muscle differentiation. In agreement with these findings, Ski-/- mice display a cranial neural tube defect that results in exencephaly and a marked reduction in skeletal muscle mass. Here we show that the penetrance and expressivity of the phenotype changes when the null mutation is backcrossed into the C57BL6/J background, with the principal change involving a switch from a neural tube defect to midline facial clefting. Other defects, including depressed nasal bridge, eye abnormalities, skeletal muscle defects and digit abnormalities, show increased penetrance in the C57BL6/J background. These phenotypes are interesting because they resemble some of the features observed in individuals diagnosed with 1p36 deletion syndrome, a disorder caused by monosomy of the short arm of human chromosome 1p (refs. 6-9). These similarities prompted us to re-examine the chromosomal location of human SKI and to determine whether SKI is included in the deletions of 1p36. We found that human SKI is located at distal 1p36.3 and is deleted in all of the individuals tested so far who have this syndrome. Thus, SKI may contribute to some of the phenotypes common in 1p36 deletion syndrome, and particularly to facial clefting.

Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases

The association of optic disc abnormalities with basal encephaloceles, specifically of the sphenoethmoidal type, and midline facial clefts has rarely been reported, although the association of midline facial clefts with encephaloceles is well described. We now report six cases of children, three males and three females, presenting with a sphenoethmoidal encephalocele, optic disc anomalies, midline facial clefting, hypertelorism, complete or partial agenesis of the corpus callosum, and endocrinological disturbances, including diabetes insipidus and pituitary dysfunction. This report underlines the importance of careful ophthalmic and endocrinological investigation of children with midline clefts associated with basal encephaloceles. These cases may represent a distinct entity within the spectrum of frontonasal dysplasia.

Morphogenesis of Doublefoot (Dbf), a mouse mutant with polydactyly and craniofacial defects.

We report the morphogenesis of a new mouse mutant, Doublefoot (Dbf). The major phenotypic features involve the limb and craniofacial regions. There is polydactyly of all 4 limbs, with typically 6-8 digits per limb. All of the digits are triphalangeal; some show bifurcations and some are not attached to the carpus/tarsus. The carpus and tarsus are broader than normal, and their elements are partially fused. There are also tibial defects. Mutant embryos show a diencephalic bulge on d 10.0, with older animals exhibiting broadened and bulbous skulls sometimes with an additional midline skeletal element, shortened snouts and bulging eyes. Homozygotes, which do not survive beyond d 15, show midline facial clefting. In this study of the embryonic and fetal development of Dbf animals, we focus on the morphogenesis of the limbs and head, and discuss the possible molecular developmental mechanisms.

Optic disc anomalies and frontonasal dysplasia

AIMSTo document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele.METHODSNames and hospital numbers of patients with midline clefts were obtained from the ophthalmology and...

Prognostic factors and long-term results in the surgical treatment of intraoral cancer

Anomalies of the face may occur in its lower or middle segments. Anomalies of the lower face generally involve the derivatives of the branchial apparatus and therefore manifest as defects in the mandible, pinnae, external auditory canals, and portions of the middle ears. These anomalies are occasionally isolated, but most of them occur in combination with systemic syndromes. These anomalies generally do not occur with respiratory compromise. Anomalies of the midface may extend from the upper lip to the forehead, reflecting the complex embryology of this region. Most of these deformities are isolated, but some patients with facial clefts, notably the midline cleft syndrome and holoprosencephaly, have anomalies in other sites. This is important because these patients will require detailed imaging of the face and brain. Anomalies of the midface tend to involve the nose and its air-conducting passages. We prefer to divide these anomalies into those with and without respiratory obstruction. The most common anomalies that result in airway compromise include posterior choanal stenoses and atresias, bilateral cysts (mucoceles) of the distal lacrimal ducts, and stenosis of the pyriform (anterior) nasal aperture. These may be optimally evaluated with computed tomography (CT) and generally require immediate treatment to ensure adequate ventilation. Rare nasal anomalies that also result in airway obstruction are agenesis of the pharynx, agenesis of the nose, and hypoplasia of the nasal alae. Agenesis of the nasopharynx and nose are complex anomalies that require both CT and magnetic resonance imaging (MRI). The diagnosis of hypoplasia of the nasal alae is a clinical one; these anomalies do not require imaging studies. Besides facial clefts, anomalies of the nose without respiratory obstruction tend to be centered around the nasofrontal region. This is the site of the most common sincipital encephaloceles. Patients with frontonasal and nasoethmoidal encephaloceles require both CT and MRI. In these patients, imaging of the brain is essential. Patients with suspected extranasal, intranasal, or mixed heterotopia may need images with CT or MRI or both. The last of the anomalies in this region is the presence of ectodermlined tracts and sinuses that may or may not be accompanied with masses. When these masses are located in the midline, they are almost always dermoids, whereas masses located off-midline may also be epidermoids. This latter group of anomalies is important because of its potential communication with the intracranial contents and the possibility of infection. Adequate imaging may require both CT and MRI. Midline facial clefts may be divided into common and complex. Common clefts represent the great majority and are isolated cosmetic defects that generally do not require imaging studies. Complex facial clefts with hypertelorism are almost always a part of the holoprosencephalies; imaging of the brain is more important than is imaging of the cleft proper. The studies should be obtained with MRI. Complex facial clefts in the presence of hypertelorism are most likely related to the midline cleft syndromes. This very rare and intricate group of disorders is generally accompanied with severe brain and eye anomalies. Imaging of these patients is better performed with both CT and MRI. We review common and uncommon facial anomalies. We have tried to approach them according to their clinical importance by dividing them into those with and without airway compromise.

The face???brain relationship

An infant with midline facial cleft and a severe brain malformation, not typical of holoprosencephaly, is reported. The CNF abnormalities suggested a malformation in the same category, but distinguishable from the various forms of holoprosencephaly sequence.

Craniofrontonasal dysplasia in two male sibs

Craniofrontonasal dysplasia (CFND) was diagnosed in a male child who had bilateral coronal craniosynostosis, midline facial clefting with cleft lip and palate, a broad and high forehead, and hypertelorism. The parents were normal and there was no family history suggestive of CFND. A small recurrence risk was counselled and prenatal ultrasound was recommended in the next pregnancy. At 23 weeks, the ultrasound scan detected a number of dysmorphic features and the pregnancy was terminated. Autopsy of the aborted male foetus showed the following features: High arched palate, a sloping forehead, flattened nose and receding chin, multiple joint contractures, particularly of the mid phalangeal joints, elbows and ankles. This report highlights the occurrence of CFND in two male siblings born to normal parents, and therefore the need to perform prenatal ultrasound in a subsequent pregnancy, even if CFND is diagnosed in an isolated case.

Holoprosencephaly: prenatal sonographic diagnosis

Fourteen cases of holoprosencephaly (HP), including 10 cases of alobar HP and four cases of semilobar HP, were identified by prenatal sonography. Intracranial and extracranial findings were reviewed to determine the accuracy and spectrum of the sonographic features. All 14 cases were reliably distinguished from other causes of fetal hydrocephalus (n = 58) detected during the same period by demonstrating absence of the midline echo (falx cerebri and interhemispheric fissure), fusion of the thalami, and abnormal ventricular configuration. Four cases of semilobar HP demonstrated incomplete fusion of the thalami and partial separation of the ventricles compared with alobar HP. Eight cases demonstrated a dorsal cyst including five with alobar HP and three with semilobar HP. One case demonstrated an unusual extraaxial fluid collection surrounding the brain, thought to be from rupture of a dorsal cyst. Facial features that were identified included a proboscis (three cases), midline facial cleft (three cases), and hypotelorism (five cases). Extracranial abnormalities that were identified included polydactyly (two cases), renal dysplasia (two cases), omphalocele (one case), and fetal hydrops (one case). We conclude that fetuses with HP can exhibit a spectrum of sonographic findings and that alobar or semilobar HP is reliably distinguished from other causes of fetal hydrocephalus by distinctive intracranial findings.