Orbital Hypotelorism Research Articles

Ethmocephaly: a rare but lethal congenital anomaly

Ethmocephaly is a rare but lethal congenital anomaly. Its incidence rate is 1 in 15,000 live births and 1 in 250 in abortuses. Babies have typical dysmorphic facies in form of orbital hypotelorism, proboscis and low set malformed ears. 32 years old, daily wage labourer delivered a baby with ethmocephaly. Baby had typical facies, and no extracranial abnormality present. Baby was stillborn. She had no antenatal checkup or ultrasonogram done. However, she had history of ingestion of certain plants during early months of pregnancy. Ethmocephaly is a lethal anomaly and mostly eliminated prenatally. Although there is no diagnostic test for ethmocephaly, and confirmation of it is done only by appearance of baby after birth, important clues like recognition of risk factors like maternal diabetes, alcohol intake, ingestion of certain plants, antenatal hydrocephalus, should not be missed. Importance of routine antenatal checkup and ultrasonogram is emphasized. Recognition of risk factors and a possible co-relation with ingestion of certain other plants is also emphasized.

EP455: Fetal ultrasound presentation and neonatal diagnosis of Freeman-Sheldon syndrome in son of previously undiagnosed adult male

eP455: Fetal ultrasound presentation and neonatal diagnosis of Freeman-Sheldon syndrome in son of previously undiagnosed adult male

In Situ Fronto-Orbital Advancement With Medial Orbital Osteotomies for Trigonocephaly-Associated Hypotelorism

In treating trigonocephaly, the value of direct surgical correction of orbital hypotelorism is controversial. In many cases of hypotelorism, the distance between the orbits increases over time after traditional fronto-orbital advancement. Still, more severe hypotelorism is not fully corrected and may benefit from a more definitive surgical intervention. We describe an in situ fronto-orbital advancement that improves severe hypotelorism and simplifies the surgical treatment of trigonocephaly. The key modification to traditional fronto-orbital advancement is an in situ medial orbital osteotomy that extends along the medial orbit, posterior to the medial canthus, and then across the inferior orbital rim into the piriform aperture. The procedure is indicated only in patients with more severe hypotelorism on physical examination. Rather than creating a freely removable bandeau during the operation, the bone segment composed of the supraorbital bar and superior orbits remains attached at the medial canthi. A midline osteotomy allows the respective orbital segments to be independently mobilized with the medial canthi left attached, and the space between them widened with gentle lateral traction and placement of an interpositional bone graft. Concomitantly, the lateral orbits and lateral supraorbital bar are contoured, advanced, and fixed with resorbable plates and screws. Representative results are shown. In situ fronto-orbital advancement with medial orbital osteotomies is a safe, efficient, and relatively simple technique that results in immediate improvement of hypotelorism and may be a worthwhile maneuver to consider in selected cases.

咬合再構成を施した唇顎口蓋裂を伴う成人の全前脳胞症の１例

We report a case of holoprosencephaly with cleft lip and palate. The patient was a 26-year-old woman who presented with malocclusion and masticatory dysfunction. She had undergone cleft surgery, including lip and palatoplasty, and alveolar bone grafting until 18 years of age, but her occlusion was not effectively managed.Facial anomalies included slight orbital hypotelorism and trigonocephaly, severe mid-facial delayedgrowth with a flat nose and a scar from bilateral chiloplasty. Intraoral examination showed malocclusion, cross bite, a severely contracted dental arch, and multiple tooth defects of the maxilla.We successfully treated her malocclusion by the following procedures:(1) alveolar bone graft for implants, (2) orthodontic treatment of the mandible and dental treatment of the upper and lower teeth, (3) sagital splitting ramus osteotomy (SSRO), (4) application of dental implants and vestibular extension with a skin graft, and prosthetic treatment of the maxilla.

Binderoid complete cleft lip/palate.

A small subset of infants with complete cleft lip/palate look different because they have nasolabiomaxillary hypoplasia and orbital hypotelorism. The authors' purpose was to define the clinical and radiographic features of these patients and to comment on operative management, classification, and terminology. The authors reviewed 695 patients with all forms of incomplete and complete cleft lip/palate and identified 15 patients with nasolabiomaxillary hypoplasia and orbital hypotelorism. All 15 patients had complete labial clefting (5 percent of 320 patients with complete cleft lip/palate), equally divided between bilateral and unilateral forms. The female-to-male ratio was 2:1. Of the seven infants with unilateral complete cleft lip/palate, one had an intact secondary palate and all had a hypoplastic septum, small alar cartilages, narrow basilar columella, underdeveloped contralateral philtral ridge, ill-defined Cupid's bow, thin vermilion-mucosa on both sides of the cleft, and a diminutive premaxilla. Of the eight infants with bilateral complete cleft lip, one had an intact secondary palate. The features were the same as in patients with unilateral cleft, but with a more severely hypoplastic nasal tip, conical columella, tiny prolabium, underdeveloped lateral labial elements, and small/mobile premaxilla. Central midfacial hypoplasia and hypotelorism did not change during childhood and adolescence. Intermedial canthal measurements remained 1.5 SD below normal age-matched controls. Skeletal analysis (mean age, 10 years; range, 4 months to 19 years) documented maxillary retrusion (mean sagittal maxillomandibular discrepancy, 13.7 mm; range, 3 to 17 mm), absent anterior nasal spine, and a class III relationship. The mean sella nasion A point (S-N-A) angle of 74 degrees (range, 65 to 79 degrees) and sella nasion B point (S-N-B) angle of 81 degrees (range, 71 to 90 degrees) were significantly different from age-matched norms ( = 0.0007 and = 0.004, respectively). The ipsilateral central and lateral incisors were absent in all children with unilateral cleft, whereas a single-toothed premaxilla was typically found in the bilateral patients. Several modifications were necessary during primary nasolabial repair because of the diminutive bony and soft-tissue elements. All adolescent patients had Le Fort I maxillary advancement and construction of an adult nasal framework with costochondral or cranial graft. Other often-used procedures were bony augmentation of the anterior maxilla; cartilage grafts to the nasal tip and columella; and dermal grafting to the median tubercle, philtral ridge, and basal columella. Infants with complete unilateral or bilateral cleft lip/palate in association with nasolabiomaxillary hypoplasia and orbital hypotelorism do not belong on the holoprosencephalic spectrum because they have normal head circumference, stature, and intelligence, nor should they be referred to as having Binder anomaly. The authors propose the term cleft lip/palate for these children. Early recognition of this entity is important for counseling parents and because alterations in standard operative methods and orthodontic protocols are necessary.

A Unilateral Cleft Lip Patient with Holoprosencephaly

Holoprosencephaly includes a spectrum of conditions that have in common the associated anomalies of false median cleft lip, nasal malformation, orbital hypotelorism, and brain malformations. We recently encountered a patient with holoprosencephaly presenting with a rare unilateral cleft of the lip. This patient was potentially viable, although mental development was retarded.

STEP EXPANSION OF THE FRONTAL BAR

In severe trigonocephaly, metopic suture synostosis extends inferiorly to involve the frontoethmoid suture, resulting in orbital hypotelorism. To correct this growth disturbance, a nasofrontal osteotomy with bone graft interposition has been advocated. We describe an alternative procedure, supraorbital bar step expansion, which does not require a bone graft or metallic miniplate fixation. The supraorbital bar step expansion avoids donor site morbidity and the potential for plate migration. This procedure not only corrects orbital distopia, but also improves the anterolateral position of the brows, lateral canthus, and temporal regions.

Metopic Synostosis

Our study applied a method of using 14 clinically relevant measurements of CT scan images to document skeletal dysmorphology in patients with metopic synostosis to determine the effectiveness of their surgical procedure after a minimum of 1 year. Ten consecutive patients with metopic synostosis who underwent a standard surgical procedure were reviewed. Preoperative and postoperative (>1 year) CT scans were compared with those of age-matched controls. Percentages of normal were then compared for significant differences. Preoperative cranial vault measurements revealed a narrowed anterior inter-coronal distance at 92 percent of normal. Orbital measurements showed a narrowed anteromedial wall interorbital distance at 79 percent of normal, a narrowed lateral orbital wall distance at 94 percent, and an elevated medial orbital wall protrusion beyond the plane of the lateral orbital walls at 115 percent. After surgery, the intercoronal distance was significantly corrected to 101 percent, the anteromedial wall interorbital distance was improved but remained undercorrected at 90 percent, and the medial wall protrusion was significantly decreased to 98 percent of normal. Quantitative measurements of CT scan images confirmed clinically observed physical findings in unoperated trigonocephaly to be orbital hypotelorism, retruded lateral orbital rims, and a narrowed bitemporal width. The surgical technique corrected the lateral orbital wall aspects of the deformity as well as the narrowed anterior cranial vault width and improved the orbital hypotelorism. (Plast. Reconstr. Surg. 93: 16, 1994.)

False median cleft

In 1949, Braithwaite and Watson proposed the term “false median cleft” for the associated deformities of median cleft lip, nasal malformation. and orbital hypotelorism.’ The first description of the deformity is credited by Fogh-Andersen to Bartolin, who wrote 300 years ago.? The presence of median cleft lip accompanied by orbital hypotelorism is said to be a reliable indication for a severe brain malformation, holoprosencephaly. We recently encountered two cases of false median cleft. The first patient, who had trisomy 13-15, had many extracranial abnormalities commonly associated with this syndrome such as polydactyly and cryptorchidism as well as holoprosencephaly. The second patient, who had normal chromosomal patterns, had no intracranial lesions but did have congenital anomalies of the eyes, which are closely related developmentally to the forebrain.

Occurrence of cyclopia, myelomeningocele, deafness, and abducens paralysis in siblings

As holoprosencephaly without chromosome defect may be associated with other CNS-related anomalies such as mental retardation, mental illness, facial paralysis, endocrine disorders, deafness, spina bifida, and myelomeningocele, we present a family in which one girl had a myelomeningocele, a brother had orbital hypotelorism, facial and cerebral asymmetries, cerebral palsy, abducens paralysis, and inner ear deafness. A 3rd pregnancy was terminated at 16 weeks; the fetus had cyclopia. A common cause is discussed in these cases and in those families in which holoprosencephaly and additional malformations occur among different generations.

Uncomplicated trigonocephaly. A radiographic affirmation of conservative therapy.

Trigonocephaly is a relatively rare deformity of the skull characterized by triangular prominence of the bones of the forehead and orbital hypotelorism. Long-term results in a group of patients with clinical and radiographic follow-up are analyzed, the radiographic findings reviewed, and possible etiologies discussed. The etiologic relationship between premature synostosis of the metopic suture and trigonocephaly is questioned. Uncomplicated trigonocephaly is a self-limited, self-correcting deformity, and a normal cosmetic appearance develops without surgical treatment. Surgical craniectomy as treatment for uncomplicated trigonocephaly is not indicated on the basis of the authors' experience.

Roentgenology of the median cleft face syndrome.

In our continuing study of median craniofacial anomalies, we have found it convenient to subdivide cases on the basis of the interorbital distance. Orbital hypotelorism in combination with a proboscis or with a flat nose and median cleft lip reliably predict a brain that has failed to divide into cerebral hemispheres (holoprosencephaly) (3). The close correlation between face and brain in these patients prompted us to study the median facial anomalies associated with orbital hypertelorism (1). This communication reiterates the results of that study with emphasis on the roentgen characteristics. Classification and Roentgen Description Orbital hypertelorism occurs repeatedly with six other median facial anomalies: (a) low “V”-shaped frontal hairline, (b) cranium bifidum occultum frontalis, (c) primary telecanthus (lateral displacement of the medial canthi relative to the pupils), (d) median cleft nose, (e) median cleft prolabium2 and premaxilla,3 (f) median cleft secondary palate. In addition to these abnormalities, some patients have frontal lipomas, dermoids, or teratomas. Of this group of anomalies, orbital hypertelorism, cranium bifidum occultum frontalis, median cleft nose, and median cleft prolabium and premaxilla were considered basic in further subdividing cases into four facial types. This classification is based on a study of 25 cases, including 8 personal ones (1). The findings in Type 1 fades (3 of 25 cases) are: (a) orbital hypertelorism, (b) complete cleft of the nose, (c) absence or marked hypoplasia of a cleft prolabium and premaxilla, and (d) cranium bifidum occultum frontalis. In addition, in this facial type the palatine processes of the maxillary bones (secondary palate) may be widely separated. Case I: U. M., a 1-month-old Negro male, had the most severe form of the median cleft face syndrome encountered and probably the most severe form compatible with life (Fig. 1). Evaluation at thirteen months of age suggested mild mental retardation. Skull roentgenograms disclosed a wide cleft (50 mm) between the bony orbits, maxillary bones, and ethmoid elements, with the cleft extending posteriorly to the sphenoid bone. The primary direction of the orbital axes was lateral. The premaxilla and palatine processes of the maxillary bones could not be identified. The anterior clinoid processes and the sella turcica were normal in appearance. Ossification of the frontal bones was deficient above the cleft. The head size was normal. Case II: C. H. was a 1-day-old male infant. Frontal and lateral skull roentgenograms showed marked orbital hypertelorism (31 mm) (Fig. 2). The maxillary bones were separated with the interspace bridged by “ethmoid filler.” The cleft in the secondary palate extended superiorly into the ethmoid area. The premaxilla could not be identified. There was an extensive defect in ossification of the frontal bones with a median bar of bone. The anterior clinoid processes and the sella turcica appeared normal.

NORMAL AND ABNORMAL INTERORBITAL DISTANCES, WITH SPECIAL REFERENCE TO MONGOLISM.

NORMAL AND ABNORMAL INTERORBITAL DISTANCES, WITH SPECIAL REFERENCE TO MONGOLISMBARRY E. GERALD, M.D. and FREDERIC N. SILVERMAN, M.D.Audio Available | Share

UNIQUE ANGIOGRAPHIC AND VENTRICULOGRAPHIC PATTERN OF ALOBAR HOLOPROSENCEPHALY (ARHINENCEPHALY).

The brain malformation in which the prosencephalon fails to divide into hemispheres and cerebral lobes is termed alobar holoprosencephaly (arhinencephaly) (2). Almost all these patients have severe median facial defects such as orbital hypotelorism, a flat nose, and a median cleft of the lip. When present in typical patterns, the facial defects are pathognomonic of the malformed cerebrum (3). Rarely, an alobar holoprosencephalic patient has no striking or obvious facial defects, or the facial pattern may be atypical (4). In these cases, contrast studies should prove diagnostic of the alobar holoprosencephaly. Since the literature contains few previous radiographic studies of this condition (5, 8), we thought our findings in one patient would be of interest. Case Report The patient, a 4-month-old white male, had trigonocephaly, orbital hypotelorism, a flat nasal bridge, absence of the crista galli and nasal septum, and a median cleft of the lip and palate. The head was transilluminated. During the infant's six months of life, he had poikilothermia, convulsions and vomiting, and he made no psychomotor progress. The fontanels bulged, and the head increased in size because of increased intracranial pressure. The frontal bulging from the increased pressure acted to blunt the originally sharp keel of the trigonocephaly. Full clinical details are given elsewhere (2, Case III). At autopsy, the cerebrum was a saucer-shaped mass confined to the frontal region (Fig. 1, A and B). The basin of the saucer formed the floor of the cerebral monoventricle. The hippocampi (labeled 4 in Fig. 1, A) had failed to roll in to form the choroid fissure and to bury the thin, membranous, ventricular roof deep within the cerebral wall. Lacking support from the cerebral wall or confinement by a corpus callosum, the ventricular roof expanded from the margins of the saucer. The dorsal sac thus formed occupied most of the supratentorial space. Radiographic Studies Plain skull radiographs showed an inter-orbital distance of only 8 mm. No crista galli, nasal septum, premaxilla, or nasal bones were seen. The secondary palate had a median cleft. These findings, of themselves, are diagnostic of alobar holo-prosencephaly (8), but contrast procedures were undertaken because of the increased intracranial pressure, an unusual complication in this malformation. Through a needle puncture in the anterior fontanel, 40 cc of ventricular fluid was withdrawn from the dorsal sac and replaced with air. In Figure 2, A, the air sharply outlines the cerebral mass in the frontal region. The shelf projecting from the posterior edge of the cerebrum is the free margin of the gyrus cinguli homologue (mesopallium, labeled 6 in Fig. 1, A). By inverting the infant, the air bubble was traced around the vault until it became arrested against the tentorium cerebelli and dorsum of the cerebellum (Fig. 2, B).

THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY)

Two patients with orbital hypotelorism, flat nose, and bilateral lateral cleft of lip and palate with a hypoplastic philtrumpremaxilla Anlage are described. Both patients had holoprosencephaly (arhinencephaly), a brain defect characterized by an arrest in prosencephalic cleavage with no or incomplete proplasia of frontal poles and olfactory bulbs. The two patients are an intermediate stage in a graded series of median facio-cerebral malformations which begins with cyclopia, and then, as face and brain transform toward normality, extends through ethmocephaly, cebocephaly, median cleft lip, and the two patients presented here. The facies of these patients are diagnostic of the type of brain malformation. Careful attention to face-brain relationships will significantly extend the number oif diagnostic facies which currently can be recognized. Physiological defects include poikilothermia, apnea, seizures, rigidity, and lack of psychomotor development. Useful diagnostic studies include skull roentgenograms to show orbital hypotelorism and absent crista galli, electroencephalography, dermatoglyphics, chromosome studies, and sometimes pneumoencephalography. Some holoprosencephalic patients, such as our first patient, who have few or no extracephalic malformations, have a 46 chromosome karyotype. Others, such as Patient 2, have many extracephalic anomalies. The literature suggests that the latter patients are apt to have 13-15 trisomy. The face predicts the holoprosencephalic brain irrespective of extracephalic anomalies or karyotype.

Orbital hypotelorism, arhinencephaly, and trigonocephaly.

Roentgenographic examination of the skull in frontal projection provides, among other information, an opportunity to evaluate the distance between the orbits. An increased interorbital distance is a characteristic feature of ocular hypertelorism or Greig's disease (8). A decrease in this cranial dimension, which properly may be termed orbital hypotelorism, is found in arhinencephaly and in trigonocephaly. In this paper, the normal range of the interorbital distance in infants and children, as determined in a series of skull roentgenograms, will be presented, and two illustrative instances of orbital hypotelorism will be reported: the first patient was affected by arhinencephaly, the second by simple trigonocephaly. The subjects of orbital hypotelorism, arhinencephaly, and trigonocephaly and the relations which exist among these three malformations will be reviewed. Case Reports Case I (Fig. 1): A white female infant was admitted to the hospital at two and a half months of age for repair of “harelip and cleft palate.” She was born at term following a normal pregnancy and delivery. The father and mother were in good health; their ages were thirty-nine and forty years, respectively. The mother had had two other apparently normal children by a previous husband. At birth, the patient weighed 3,150 gm.; her head circumference was 28.5 cm. (normal, 34.6 cm.). During the first two months of life, she had two left-sided convulsions and showed nystagmus and some spasticity of the extremities. On admission, the child weighed 4,200 gm. and the circumference of her head was 34.5 cm. (normal, 40.6 cm.). The epicanthal folds were prominent and there was a mongoloid slant of the palpebral fissures. The eyes were close-set, bulged slightly, and showed a bilateral nystagmus. The forehead was well shaped. The nose and nasal bridge were flat. The nasal bones and the nasal septum were absent. In the upper lip, there was a mid-line cleft which extended into the single nasal opening (absent philtrum). A bony defect, 0.5 cm. in width, was present in the mid-portion of the superior alveolar ridge (absent premaxilla). The palate was normal. The tongue was thought to be enlarged. The extremities were somewhat spastic, but the patient moved them freely. The rest of the physical examination was not remarkable. Roentgenograms of the skull, taken at eight days of age (Fig. 2), showed a small frontal bone and a small anterior cranial fossa. The roofs of the orbits were high in position. The metopic suture and the other cranial sutures were open in their entirety and normal in width. The interorbital distance was markedly reduced (0.55 cm.); this finding was more pronounced radiographically than clinically. A first-stage operation for the defect in the upper lip was undertaken at three months of age.