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PubMed1998

sFRP-2 is a target of the Wnt-4 signaling pathway in the developing metanephric kidney.

Members of the Wnt family of secreted glycoproteins act as short-range signaling molecules in vertebrate embryogenesis. Previous work has shown that Wnt-4 is required for kidney development. Mice lacking functional Wnt-4 fail to form pretubular cell aggregates. Wnt-4 acts as an autoinducer of the mesenchymal to epithelial transition underlying nephron development. We have identified a member of the gene family encoding secreted frizzled related proteins (sFRP), putative Wnt antagonists, that shows overlapping expression with Wnt-4 in aggregating mesenchyme and simple epithelial bodies during metanephric development. sFRP-2 expression is absent in metanephric mesenchyme of kidneys mutant for Wnt-4 and is coinduced with Wnt-4 in isolated metanephric mesenchyme by cells expressing Wnt-4. The cysteine-rich domain of sFRP-2 binds to Wnt-4 as shown by coimmunoprecipitation experiments. Hence, sFRP-2 is a target of the Wnt-4 signaling pathway in the metanephric kidney and may modulate Wnt-4 signaling. sFRP-2 expression is highly dynamic and specific during other aspects of embryogenesis. sFRP-2 is expressed in subpopulations of ependymal cells in spinal cord and brain, in the developing eye, in limb bud mesenchyme, in the heart, and strongly in skeletogenic condensations of facial bones, suggesting widespread interaction with other members of the Wnt gene family during embryogenesis.

Animals↗
PubMed1997

Massive intratumor hemorrhage in facial plexiform neurofibroma.

BACKGROUND: Plexiform neurofibromatosis is a feature of von Recklinghausen's disease. Head and neck lesions may produce varying degrees of cosmetic and functional deformity. However, life-threatening hemorrhage into facial plexiform neurofibromas has not been previously reported. METHOD: We report two patients with von Recklinghausen's disease who experienced massive hemorrhage into facial neurofibromas, one following a blunt injury and the other without a known initiating event. RESULTS: Conservative management did not stop the hemorrhage into facial neurofibromas in either instance. Surgical exploration was mandated for hemorrhage control and evacuation of blood clots. Hemostasis was attained by a combination of hypotensive anesthesia and chromic catgut suture ligatures. CONCLUSIONS: These case reports demonstrate a potentially lethal complication in patients with facial plexiform neurofibroma. Where a competent and experienced interventional neuroradiologist is not available, surgical exploration should be undertaken to control bleeding.

Adolescent↗
PubMed1977

Non-epithelial tumors of the nasal cavity, paranasal sinuses and nasopharynx: a clinico-pathologic study. VII. Myxomas.

In a study of non-epithelial tumors involving the nasal cavity, paranasal sinuses and nasopharynx, 256 lesions, 156 benign and 100 malignant, were identified. Of these, six were classified as myxoma. Myxomas of facial bones, neoplasms of uncertain histogenesis, infiltrate adjacent tissues and if not completely excised will recur locally. In this series, three patients at one time were treated with limited local excisions. Tumor persisted or recurred in all three. Five patients were treated with en bloc resection (following recurrences in two patients). None of these patients subsequently developed recurrent tumor. We believe that myxomas should be widely resected to prevent recurrence. The extent of the surgical resection should depend on the size, extent and location of the lesion.

Adolescent↗
PubMed1991

Locally advanced paranasal sinus and nasopharynx tumors treated with hyperfractionated radiation and concomitant infusion cisplatin.

Fourteen patients with paranasal sinus complex and nasopharynx tumors were treated at State University of New York Health Science Center at Brooklyn (Brooklyn, NY) with a regimen of split-course hyperfractionated radiation (120 cGy/fraction) and concomitant cisplatin infusion (5 to 7 mg/m2/24 hours). All of the patients had T4 tumors or massively recurrent disease with base of skull or facial bone involvement. Twelve patients were treated with curative intent receiving total doses of 6000 to 6960 cGy (modal 6750 cGy), whereas two patients were treated with less than 5000 cGy as palliation. Eleven of the 12 patients (92%) achieved a complete response, and 7 of 12 (58%) are alive at 35 to 72 months (mean, 47 months). Five patients are alive with no evidence of disease, and two with a local recurrence. Three patients died of distant disease, and two died from a local recurrence. When the response to treatment was analyzed based on tumor volume and radiation dose, only two of nine lesions measuring between 4 to 10 cm failed locally. The two palliative patients had almost complete local clearance of the disease but died at 2 and 8 months, respectively. In nine patients, the eye or optic nerve was included in the treatment field and received between 2000 to 6960 cGy. Only one of these nine patients had ophthalmic complication and this was confined to the cornea.

Carcinoma, Adenoid Cystic↗
PubMed2000

Anatomy and imaging of the deep fat of the face.

The aim of this study is to investigate the deep adipose structures of the face. This study is undertaken on anatomical material dissected or sectioned in the three basic planes and in histological sections. The buccal fat pad is described with its main part and its various extensions implicating several superficial and deep regions of the face. Likewise, the parapharyngeal fat pad in the prestyloid space is described. The histology of the structures is discussed, together with the non-mobilizable nature of the fat. Imaging by MRI shows the shape and relations of these fat pads with the neighboring viscera and muscles and their role as early markers in tumor invasion. Finally, their function, as an intermuscular sliding structure, is highlighted.

Adipose Tissue↗
PubMed1985

An X-linked recessive basal ganglia disorder with mental retardation.

We report a previously apparently undescribed, X-linked recessive basal ganglia disorder segregating in three generations of one family. The affected patients were variably mentally retarded, although some showed strengths in oral reading and memory. Most affected males had frontal bossing and increased head circumference with large calvaria in relation to facial bones. Their height and weight did not differ from that of other relatives; testicular size was average, chromosomes were normal, and results of laboratory investigations for known metabolic disorders were normal. All patients examined had neurological impairment, including persistent frontal lobe reflexes, cogwheel rigidity, postural changes, and Parkinsonian-type tremors. Some had strabismus; several had seizures. Although carriers of the condition were not consistently abnormal, two had suggestive signs. No definitive indication of the disorder was documented in infancy in any affected male, and it is possible that this could be due to lack of careful prospective clinical evaluation rather than to the absence of symptoms in early life.

Basal Ganglia Diseases↗
PubMed1989

Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome).

We report one new case of congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome) and one case of a diencephalic nodule associated with craniofacial malformations. Based on a review of 11 cases of Pallister-Hall syndrome documented by pathological examination, two cases presumed by phenotype, three cases of hypothalamic hamartoma with craniofacial anomalies only, and several cases of related interest, we delineate the clinical, neuroradiologic, and neuropathologic manifestations which aid in differential diagnosis. Clinical manifestations in infants with Pallister-Hall syndrome included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low-set, posteriorly angulated ears, kidney and lung anomalies, congenital heart defects, imperforate anus, and micropenis with undescended or hypoplastic testes in males. These manifestations were associated with varying degrees of panhypopituitarism and pituitary aplasia. In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly. Other cases of hypothalamic hamartoma have had associated palate or heart defects or presented with precocious puberty. Of the infants with a hypothalamic hamartoblastoma at autopsy, neuropathologic findings were consistent with a primitive neuroectodermal tumor. Surgical tissue from our sole survivor suggested such tumors might mature, and the tumor has not recurred. Neuroradiologic diagnosis may be difficult but should be attempted in infants with these clinical manifestations; due to the need for prompt initiation of appropriate therapy.

Cleft Lip↗
PubMed2007

Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

A male with 46,XY,t(3;17)(p14.3;q24.3) presented with gingival hyperplasia, hypertrichosis, unusually large ears and marked hypertrophy of the nose, characteristic of the Zimmermann-Laband syndrome (ZLS). Other features include large facial bones and mandibles, large protruding upper lip, enlarged fingers and toes, strabismus, and enlarged phallus. Knowledge of a 46,XX,t(3;8)(p21.2;q24.3) reported previously in a mother and daughter with ZLS suggests that the 3p14.3-p21.2 region may contain a gene responsible for ZLS. We have reassessed the chromosome 3 breakpoint region of the t(3;8) and revised its breakpoint location to 3p14.3, based upon an updated human genome sequence assembly. Using fluorescence in situ hybridization (FISH) with BAC clones, we have also identified a breakpoint spanning clone at 3p14.3 in our t(3;17) patient, thereby narrowing the breakpoint to a region of approximately 200 kb. These data suggest that the gene responsible for ZLS is located in 3p14.3 and implicates four likely candidate genes in this region: CACNA2D3, encoding a voltage-dependent calcium channel, LRTM1, a gene of unknown function embedded within CACNA2D3, WNT5A, encoding a secreted signaling protein of the WNT family, and ERC2, which codes for a synapse protein.

Adaptor Proteins, Signal Transducing↗
PubMed1988

Craniofacial sequelae of lesions to facial and trigeminal motor nuclei in growing rats.

Unilateral electrolytic lesions were made in the left-side facial motor nucleus (FMNu) of six Sprague-Dawley rats at 35 days of age in order to correlate craniofacial sequelae with changed motoneuron function. Experimental and control rats were killed at 22, 32, 42, and 52 days postoperatively to provide muscle weight, brain histology, and dry skull preparations for analyses. Dissection, muscle weight, motoneuron count, and osteometric data revealed that lesion-side facial and masticatory muscles were affected by the lesions. Paired t-tests indicated that significant differences existed between weights of experimental lesion- and nonlesion-side anterior digastric, temporalis, masseteric complex, and medial pterygoid muscles, numbers of facial and trigeminal motoneurons, and several skeletal dimensions of the skull. Basi-cranial dimensions of experimental animals were least affected by the lesion, whereas zygomatic arch, dorsal facial region, and mandibular condyle dimensions were most affected. Statistical analyses also detected significant differences between experimental and control groups for several skeletal dimensions of the skull. Data indicated that damage to the trigeminal motor nucleus (TMNu) was secondary to the primary lesion in the FMNu. Motoneurons within the facial and trigeminal neuromuscular complexes (FNC and TNC) play an important role in craniofacial growth and development.

Animals↗
PubMed2005

Using finite-element analysis to investigate suture morphology: a case study using large carnivorous dinosaurs.

Finite-element analysis (FEA) can be used to investigate the mechanical significance of sutures and regions of intracranial flexibility in skulls. By modeling the stress response to feeding forces in a finite-element skull model (with appropriate boundary conditions), one can compare the axis of distortion and orientation of stress and strain in the model to the degree of movement at actual sutural contacts in the real skull. Hypotheses detailing the effect of introducing patency or flexibility on mechanical performance can be constructed and subsequently tested. In this study, the correlation between stress environment, cranial strength, and sutural morphology and mobility is investigated in the cranium of the large theropod dinosaur Allosaurus fragilis. Theropods are an especially interesting model system as their skulls were massive (over 100 cm in some cases), may have generated extremely large bite forces, yet patent sutures persisted between many of the facial bones. In this analysis, it was discovered that Allosaurus cranial sutures appear generally capable of accommodating stress and strain patterns generated during biting. This study highlights the potential of FEA in devising and testing hypotheses of form and function and argues that useful information can be obtained from finite-element models of extinct animals, providing that adequate assumptions are made and appropriate questions asked.

Animals↗
PubMed2005

Developmentally regulated expression of Shh and Ihh in the developing mouse cranial base: comparison with Sox9 expression.

The cranial base, located between the cranial vault and the facial bones, plays an important role in integrated craniofacial development and growth. Transgenic Shh and Sox9-deficient mice show similar defects in cranial base patterning. Therefore, in order to examine potential interactions of Shh, Ihh, another member of the Hh family, and Sox9 during cranial base development and growth, we investigated their cellular mRNA expression domains in the embryonic (E) and early postnatal (PN) cranial base from E10 to PN5 using sectional radioactive 35-S in situ hybridization. Of the Hhs, Shh was observed in the foregut epithelium and the notochord, while Sox9 showed broad expression in the loose mesenchyme of the cranial base area during E10-E11. Subsequently, from E12 onward, all genes were observed in the developing cranial base, and after birth the genes were prominently colocalized in the prehypertrophic chondrocytes of the synchondroses. Collectively, these data suggest that Hh-Sox9 auto- and paracrine signaling interactions may provide a critical mechanism for regulating the patterning of the cranial base as well as for its development and growth.

Animals↗
PubMed2003

Cyclophosphamide, methotrexate, and cytarabine embropathy: is apoptosis the common pathway?

BACKGROUND: Cyclophosphamide (CP) is an alkylating agent primarily used for the treatment of autoimmune disease and cancer. The purpose of this article is two-fold: first, to indicate that CP is a recognized human teratogen based on the features seen in a child prenatally exposed to this agent, as well as features seen in the previously reported cases; second, to suggest a common pathway to explain the similarity in the pattern of malformation seen in infants prenatally exposed to CP, in infants prenatally exposed to methotrexate (MTX), and in infants prenatally exposed to cytosine arabinoside (CA). METHODS: Case report and review of the literature of an infant prenatally exposed to CP during the first trimester with a specific pattern of malformation. Features are compared to seven previous reports. RESULTS: A common pattern of malformation is delineated including growth deficiency, hypoplasia of the calvarial and facial bones, and oligodactyly. CONCLUSIONS: The finding of a similar pattern of malformation among eight infants prenatally exposed to CP suggests that CP is a human teratogen. MTX and CA produce similar patterns of malformation in prenatally exposed infants despite very different pharmocologic profiles and metabolism. We speculate that the phenotype is a consequence of apoptosis in certain cells which are susceptible to the effects of the teratogen at specific stages of development.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

Value and limits of computer-assisted tomography.

Three years ago, at the VIIth International Congress of Radiology in Otorhinolaryngology, held in Copenhagen, the early impressive results of computer-assisted tomography (CAT) in otorhinolaryngology were presented. Since considerable technologic and diagnostic progress of CAT has taken place in the meantime, questions about the increase in CAT's value and the expansion of its limits are appropriate now. Computed and, in some cases, conventional tomograms of facial lesions are used in the discussion of these questions. There is no doubt of CAT's advance within the last few years; there are, however, limits of CAT to be emphasized: (a) coronal CAT might be uncomfortable (especially if the gantry cannot be tilted), unsuccessful (e.g., in cases of neck stiffness), and even dangerous (when head injury is combined with trauma to the cervical spine); (b) enhancement is often not useful (except when intracranial tumor invasion is suspected); (c) specific diagnosis, based on CAT findings only, is impossible in most cases; (d) the radiation dose, which increases with improvement in the quality of the image, must be considered in each case; and (e) CAT does not replace conventional x-ray techniques, least of all polytomography.

Aged↗
PubMed1988

Oculo-facio-skeletal myorhythmia as a cerebral complication of systemic Whipple's disease.

A fifth case of oculomasticatory myorhythmia associated with cerebral Whipple's disease is reported. This peculiar abnormal movement has never been described in association with cerebral dysfunction other than Whipple's disease. The present case exhibited rhythmic convergence of the eyes and synchronous (1-2 Hz) contractions of the masticatory muscles and of the proximal and distal skeletal muscles. These abnormal movements occurred 13 years after the beginning of the disease. They were persistent and unchanged until the death of the patient 3 months later. No treatment was effective to suppress the involuntary movements (clonazepam, baclofen, antibiotics). Associated neurological signs included global supranuclear ophthalmoplegia, facial weakness, bilateral ptosis, absent gag reflex, and intellectual deterioration.

Brain↗
PubMedDate not supplied

Microphthalmia--prenatal ultrasonic diagnosis: a case report.

Prenatal real-time ultrasonographic diagnosis of microphthalmia is presented. Diagnosis was made at 18 weeks' gestation in a fetus of a patient with a previous infant affected with the syndrome of cryptophthalmia with absence of septum nasi and ambiguous genitalia (Fraser syndrome). Recognition of microphthalmia as a part of Fraser syndrome and the easy visualization of fetal facial bones and orbits in the second trimester made the diagnosis possible.

Abnormalities, Multiple↗
PubMed1991

Border disease of sheep--aspects for diagnostic and epidemiologic consideration.

Border Disease (BD) is a condition of newborn sheep that results from congenital infection by a non-cytopathic pestivirus, occurring during the first half of gestation. The variations in expression of the virus directly relate to the age of the fetus at the time of infection. There are four distinct disease syndromes: (1) early embryonic death, (2) abortion and stillbirth, (3) birth of lambs with malformations, and (4) birth of small, weak lambs, lacking characteristic clinical signs, but bearing features of immunosuppression. In the newborn, the BD virus may be recovered from all tissues and teratogenic lesions are found in the endocrine, nervous, skeletal, integumentary and immune systems. These effects of virus infection are manifest in the clinical signs characteristic of the disease, such as tremors, ataxia, hairy birthcoat, low birth weight, facial bone malformations, short-boxy stature, and eye abnormalities. The consequences of the BD compromised immune system is an increased susceptibility to infection, a failure to produce specific antibody to BD virus, and an inability to clear the virus; features characteristic of the immuno-tolerant state. The lifelong shedding and persistence of virus is of epidemiologic importance. The persistently infected BD ewe remains a source of infection for the flock both through horizontal transmission (virus shedding) and congenital transmission (a persistently infected ewe will always bear a BD lamb). Detection of persistently infected individuals within a flock is difficult: clinical signs abate with time and most frequently no antibody to BD is produced.

Animals↗
PubMed1993

Variations of the ethmoid labyrinth and sphenoid sinus and CT imaging.

Three hundred macerated and partly isolated postmortem mid-facial bones were studied for the development, variations and dimensions of the structures of the nasal cavity. On 184 axial CT scans of bones (102 male, 82 female) from patients ranging in age from 1 to 90 years old, the dimensions of the ethmoid labyrinth and sphenoid sinus were studied in detail in order to determine which anatomic situation might be unsafe during clinical endoscopic interventions. Six anatomic variations were identified. Most unsafe for surgery seemed to be the following types: type III, in which the anterior diameter of the ethmoid labyrinth was large and the posterior ethmoid and sphenoid diameters were relatively narrow; type V, in which both ethmoid dimensions were large and the sphenoid diameter was narrow: type VI, in which the ethmoid labyrinth had an "hour-glass" shape. Present findings indicate that CT orientation before any endoscopic intervention might help to avoid serious complications.

Adolescent↗