Median Cleft Face Syndrome Research Articles

Finding its place on the spectrum of pituitary duplication disorders, duplication of pituitary stalk: A case report with brief review of literature.

Pituitary gland duplication is a rare abnormality and isolated duplication of the pituitary stalk without any pituitary anomaly is an even rarer entity with this case being the first documented case till date. Although incidentally discovered cases of duplication of pituitary gland (DPG) have been reported, sometimes with a duplicated pituitary stalk, patients with this disorder usually present with other craniofacial abnormalities. Consequently, DPG plus syndrome is used as it is often accompanied by endocrine disturbances and pathologies such as median cleft face syndrome, ocular disorders, craniocervical bony abnormalities, vascular anomalies and tuberomammillary masses. Since this is the first reported case without any additional pituitary gland anomaly, we propose the acronym DPS (duplication of pituitary stalk) to be used to unify this entity as we are certain that much like the previously described pituitary duplication disorders, more cases will be documented independently rather than under the umbrella of pituitary duplication disorders. This is critical as the life expectancy (age of diagnosis) in the cases reviewed in our study is as good as normal population with no obvious increase in mortality as compared to existing pituitary duplication syndromes. We present a case report of a 2year 7month old girl who was referred by the paediatrician for evaluation of premature thelarche. The duplication of the pituitary stalk along with mega cisterna magna and tuberomammillary fusion was the only positive finding on imaging with the pituitary gland being absolutely normal.

A Rare Case of a Combination of Tessier Cleft 0 and 3 in a 4-Year-Old Child-A Case Report.

Description and successful management of a patient with Tessier no. 0 and 3 facial cleft is being presented. Appropriate evaluation was done to rule out the presence of median cleft face syndrome. Lip cleft was repaired by straight line technique with staggering at the vermilion border. Nasal cleft was reconstructed by a transposition flap and the flap taken from the upper lip after correction of the midline cleft. Satisfactory outcome was achieved for this singular deformity by conforming to the basic tenets of plastic surgery.

A RETROSPECTIVE STUDY ON RECOGNIZABLE SYNDROMES ASSOCIATED WITH CRANIOFACIAL CLEFTS

Objective: There are about 300 to 600 syndromes associated with clefts in the craniofacial region. The cleft lip, cleft palate and cleft lip palate are the most common clefts seen in the craniofacial region. Sometimes these clefts are associated with other anomalies which are known as syndromic clefts. The objective of this study is to identify the syndromes associated with the clefts in the craniofacial region. Materials & methods: This retrospective study consists of 270 cases of clefts in the craniofacial region. The detailed case history including the maternal history, antenatal, natal, perinatal history and family history were taken from the patients and their parents. Based on the clinical examination, radiological findings and genetic analysis the different syndromes were identified. Results: 18 syndromic clefts were identified which belong to 10 different syndromes. It shows 6.67% of clefts are syndromic and remaining are nonsyndromic clefts. Conclusion: Median cleft face syndrome, Van der woude syndrome and Pierre Robin sequence are the common syndromes associated with the clefts in the craniofacial region.

CT and MRI of congenital nasal lesions in syndromic conditions.

Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis (e.g., Apert and Crouzon syndromes) among other craniofacial syndromes. Imaging with CT and MRI plays an important role in characterizing the nasal anomalies as well as the associated brain and cerebrovascular lesions, which can be explained by the intimate developmental relationship between the face and intracranial structures, as well as certain gene mutations. These conditions have characteristic imaging findings, which are reviewed in this article.

Duplicated Pituitary Gland and Odontoid Process

The development of the pituitary gland is not well understood, but duplication of the gland, a rare embryonic anomaly, may shed some light on the process. Since 1880 only about 40 cases have been described. A 56-year-old woman complained of chronic bilateral upper extremity paresthesia and numbness along her first three fingers relieved by rest and exacerbated by increased activity. Magnetic resonance imaging of her head and neck showed an incidental discovery of a duplication of the pituitary infundibulum and pituitary fossa. Computed tomography of the neck showed congenital fusion of C2 with C3, C4 with C5, C1 with the occipital bone, and a duplication of the odontoid process. Her physical examination and all laboratory data were negative. Only seven patients with a pituitary duplication have ever survived beyond puberty. While all of these patients had normal mental capabilities, they also all had obvious craniofacial malformations. Unlike our patient, all other reported cases of duplicated pituitaries have been associated with abnormalities of the face or brain. Previously proposed theories for duplicated pituitary glands include failed twinning, teratogens, and an extreme form of the median cleft face syndrome. We feel that the cleft theory developed by Morton et al. best describes the cause of our patient's malformations. Such anomalous presentations will improve our understanding of how the pituitary gland develops and the order in which cranial structures develop to cause these cranial malformations.

Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature

Background:Duplication of the pituitary gland (DPG) is a rare craniofacial developmental anomaly occurring during blastogenesis with postulated etiology such as incomplete twinning, teratogens, median cleft face syndrome or splitting of the notochord. The complex craniocaudal spectrum of blastogenesis defects associated with DPG is examined with an illustrative case.Case Description:We report for the first time in the medical literature some unique associations with DPG, such as a clival encephalocele, third cerebral peduncle, duplicate odontoid process and a double tongue with independent volitional control. This patient also has the previously reported common associations such as duplicated sella, cleft palate, hypertelorism, callosal agenesis, hypothalamic enlargement, nasopharyngeal teratoma, fenestrated basilar artery and supernumerary teeth. This study also reviews 37 cases of DPG identified through MEDLINE literature search from 1880 to 2011. It provides a detailed analysis of the current case through physical examination and imaging.Conclusion:The authors propose that the developmental deformities associated with duplication of pituitary gland (DPG) occur as part of a developmental continuum, not as chance associations. Considering the fact that DPG is uniquely and certainly present throughout the spectrum of these blastogenesis defects, we suggest the term DPG-plus syndrome.

A chronicle of Tessier no. 0 and 1 facial cleft and its surgical management

Description and successful management of a patient with Tessier no. 0 and 1 facial cleft is being presented. This bizarre coexistence of two of the rare facial clefts in a single patient deserves a place in the cleft database. Appropriate evaluation was done to rule out the presence of median cleft face syndrome. Lip cleft was repaired by straight line technique with staggering at the vermilion border. Nasal cleft was reconstructed by replacing the missing lower lateral cartilage with conchal cartilage via endonasal approach. Satisfactory outcome was achieved for this singular deformity by conforming to the basic tenets of plastic surgery.

Atypical midline cleft with duplication of the metopic suture

In contrast to the common clefts of the lip, alveolus and palate, the atypical clefts of the face may come in myriad patterns of clinical expression and are often not easy to define. In this report, a case of median craniofacial dysraphia is described. At presentation, the 3-month-old male patient had a bilateral complete cleft of the lip, alveolus and palate. The nose was wide and a horn was present on the nasal dorsum. 3-D CT AND MRI REVEALED: Duplication of the metopic suture ending at the wide anterior fontanel; orbital hypertelorism; midline cranial cleft ending just superior to the nasal dorsum; frontoethmoidal encephalocoele and holoprosencephaly. The presence of two metopic sutures was confirmed during surgery. The presented case carries the characteristics of the median cleft face syndrome. However, it differs from similar cases in two respects. First, the patient had two metopic sutures, one on either side of the cranial extension of the median cleft. Second, the patient had a bilateral cleft lip in contrast to the expected median cleft lip deformity.

Monozygotic twins discordant for frontonasal malformation.

Frontonasal malformation (FNM), also known as the median cleft face syndrome, encompasses a spectrum of phenotypes that are believed to result from a single underlying aetiology. Over the course of two decades, the Craniofacial Unit at the Radcliffe Infirmary, Oxford has been involved in the management of six same-sex twins where only a single twin is affected. With local ethical committee approval, five sets of twins were traced and consented to participation in this study. Monozygosity of all five twin pairs was confirmed, and the clinical features were reviewed. We discuss the mechanistic relationship between FNM and the twinning process and the genetic implications of this association.

Duplication of the pituitary gland in a newborn with median cleft face syndrome and nasal teratoma.

A newborn suffered immediate neonatal respiratory distress because of an obstructive, soft-tissue nasal mass. Clinical examination revealed a cleft palate with a protruding polypoid mass. CT and MRI showed a heterogeneous nasopharyngeal mass and associated intracranial abnormalities - duplication of the hypophysis and hypoplasia of the corpus callosum. Duplication of the hypophysis is a very rare malformation, only 13 cases having been previously described. The suggested pathogenesis is duplication of the prechordal plate and anterior end of the notochord during early embryological development.

Transpalatal approach for the extracranial surgical repair of transsphenoidal cephaloceles in children.

The surgical treatment of transsphenoidal cephaloceles in children is controversial. Reduction and repair via a transcranial approach are associated with high postoperative rates of morbidity, mortality, and hypothalamic dysfunction. In this study, four patients, aged 3 to 35 months at surgery, underwent successful transpalatal repair of two encephaloceles and two meningoceles. Two patients presented with nasal obstruction in infancy, one presented with unexplained meningitis, and in one patient the lesion was found incidentally during evaluation for seizures. Two children had median cleft face syndrome, another had an associated Arnold-Chiari type I malformation, and the fourth had no other cranial abnormalities. All patients underwent preoperative evaluation including magnetic resonance (MR) imaging. Auditory, ophthalmological, genetic, endocrinological, or other evaluation was undertaken as indicated. Lesions were approached through the median raphe of the hard and soft palates. All cephaloceles were easily visualized and dissected after division of the nasal palatal mucosa. The dural sac and its contents were reduced by surface coagulation after division and dissection of the overlying mucosa. Once reduced, the bone defect was obliterated in three of four patients. The dura was not opened and anomalous neural elements were not resected. At follow-up evaluation, all patients demonstrated resolution of preoperative symptoms without evidence of infection or lasting morbidity. Follow-up MR imaging showed reduction in all cases. The authors conclude that this transpalatal approach is safe and reliable for the treatment of transsphenoidal cephaloceles in young children.

Basal encephalocoele: imaging and exposing the hernia

Basal encephalocoeles are rarely reported anomalies. Eight cases seen by one unit manifested external facial features and internal cerebral anomalies characteristic of the individual encephalocoele subgroups. CT and MR imaging delineates the anatomy of the skeletal defect and the associated cerebral abnormalities. Such imaging of cases of median cleft face syndrome may identify previously unsuspected basal encephalocoeles. Transcranial correction with increased exposure, if needed, by the technique of facial bipartition has been performed in five cases.

The median cleft face syndrome with associated cleft mandible, bifid odontoid peg and agenesis of the anterior arch of atlas

A case is reported of median cleft face syndrome with bifid tongue and odontoid peg and failure of formation of the anterior arch of the atlas. These are features which have not been reported previously. The preoperative CT demonstrated its potential to enhance our understanding of complex and rare craniofacial deformities.

Median Cleft Face Syndrome

Examination (including CT and magnetic resonance studies) of 11 unrelated children with median cleft face syndrome revealed 6 (55%) with dense calcification of the falx and 5 (45%) with interhemispheric lipoma. Of the 11 children, 3 exhibited Sedano facies type A, 4 exhibited Sedano facies type B, and 4 exhibited Sedano facies type D. Type A patients had no calcification or lipoma. Two of three type A patients were products of separate twin gestations, the only twins in the series. Type B patients had frequent falx calcification (three of four) and interhemispheric lipoma (two of four). Two of the four type B patients had concurrent Goldenhar syndrome, the only such patients in the series. Type D patients also had frequent falx calcification (three of four) and interhemispheric lipoma (three of four). Patients with median cleft face syndrome and Sedano facies type B or D should be examined radiologically for concurrent intracranial pathology.

Median cleft-face syndrome. (Turkish)

Median cleft-face syndrome. (Turkish)

Antenatal diagnosis of median cleft face syndrome: Sonographic demonstration of cleft lip and hypertelorism

Antenatal diagnosis of median cleft face syndrome: Sonographic demonstration of cleft lip and hypertelorism

Sinusoidal fetal heart rate pattern associated with massive fetomaternal transfusion

formity. As no undulating movements of the tongue were seen in this case, this finding may be more indicative of cleft palate . The ability to determine inner and outer orbital distances reliably has recently been established. This parameter is useful not only in assessment of gestational age but also in determining the presence of hypotelor ism or hypertelorism. In our patient both the inner and outer orbital distance were increased for gestational age. Inner and outer canthal distances correlate well with inner and outer orbital distances in the absence of primary telecanthus or other soft tissue abnormalities. At birth, these canthal measurements were markedly increased, confirming the diagnosis of hypertelorism. The reason for the association of median cleft face syndrome with severe hydrocephalus due to aqueductal stenosis in this case in unclear. It is uncommon to find either hypertelorism or any other manifestation of the median cleft face syndrome associated with hydrocephalus. In this case, the severe hydrocephalus led us to a more detailed examination of the head and face. This experience emphasizes the dictum that whenever fetal hydrocephalus is diagnosed, a thorough examinaCommunications in brief 97

Hypertelorism and the median cleft face syndrome. An embryological analysis.

A microscopical study of the early and late development of the face was performed in 77 human embryos and fetuses. After the transformation of both nasal placodes, via nasal grooves, into the nasal tubes the ectoderm of the face is closed superficially and the early development of the face (less than or equal to 17 mm crown-rump length (C-RL)) is terminated. Between the nasal tubes the internasal groove is present. Furthermore these embryos show physiologically a flat nose and hypertelorism. During the late development (greater than or equal to 17 mm C-RL) of the face the internasal groove disappears due to the outgrowth and differentiation of the nasal septum in the frontocaudal direction. Simultaneously (17-27 mm C-RL) the distance between the eyes decreases relatively, because of a relative lag in transverse growth. The differentiation of the facial mesenchyme into bone centres starts in the same period. From this embryological point of view the major anomalies of the median cleft face syndrome (hypertelorism--orbital as well as interorbital--and cranium bifidum occultum, median cleft nose, median cleft prolabium and median cleft premaxilla), can be classified as secondary or late, i.e., differentiation, defects.

Retinal detachment in median cleftface syndrome

Retinal detachment in median cleftface syndrome

Median Cleft Face Syndrome or Frontonasal Dysplasia: A Case Report with Associated Kidney Malformation

The authors present a case of an 11-month-old girl with the medial cleft face syndrome and the following malformations: ocular hyperterolism, primary telecanthus, cleft nose with absent tip, broad nasal root, complete absence of the left upper lid, and abnormal hair-line implantation in the corresponding frontal region, high arched palate, neurosensorial deafness and agenesia of the right kidney. The authors propose that the eyelid is responsible for the area of hair growth suppression around the eyes. This is the first case report of median cleft face syndrome associated with renal agenesia.