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PubMed1991

Awan's syndrome (primary orbital hypertelorism, narrow-angle glaucoma and lean physique) in two women.

Awan's syndrome, characterized by a lean physique, orbital hypertelorism and angle-closure glaucoma, is a distinct clinical entity which should be more widely recognized. The patients, usually women in their sixth decade, may suffer several self-limiting and misdiagnosed episodes of angle-closure before a definite diagnosis is made. The general physical appearance and hypertelorism in two women, one aged 56 and the other 59 years, with Awan's syndrome aroused the suspicion of angle-closure glaucoma. The timely confirmation of diagnosis and proper management prevented further visual loss in both patients. Some patients with Awan's syndrome may show advanced damage to the optic nerve without ever having had an acute attack of glaucoma or any other symptoms, which makes it important that all patients with orbital hypertelorism and suspected glaucomatous optic discs should undergo gonioscopic evaluation to rule out glaucoma.

Body Constitution↗
PubMed1990

[Hypertelorism-hypospadias (BBB) syndrome. 2 additional family studies].

We report on two unrelated families with the hypertelorism-hypospadias (BBB-) syndrome. The male index patients, 3 and 10 months old, respectively, have ocular hypertelorism, cleft lip and palate, high and broad nasal bridge and hypospadias. The patients' mothers, maternal grandmothers and one patient's sister show hypertelorism. In addition, we summarize the characteristics of previously published cases.

Bone Diseases, Developmental↗
PubMed1986

Variable expressivity of hypertelorism in three siblings with Greig syndrome.

Two sisters and one brother are reported with a complex of congenital malformations, hypertelorism, mental retardation, flattened nasal root, divergent strabism++, mongoloid palpebral fissures, malformations of the ears, pathologic alterations of the eye-fundus in terms of optic nerve atrophy, all suggesting Greig syndrome. The major symptom of this syndrome, the hypertelorism, varied considerably in its expressivity in the three siblings. This fact is normally taken into consideration in the diagnosis of Greig syndrome, but we suggest that an alteration in skull formation should be the criterion for the syndrome rather than extreme hypertelorism.

Abnormalities, Multiple↗
PubMed1971

Comments on frontonasal dysplasia, ocular hypertelorism and dystopia canthorum.

The mean canthal index values of patients with frontonasal dysplasia are tested for differences in facies A, B, C, and D. A general discussion of ocular hypertelorism and dystopia canthorum is presented. Ocular hypertelorism is considered a sign which may occur in a variety of disorders. Quantitative methods for determining ocular hypertelorism are critically reviewed.

Abnormalities, Multiple↗
PubMed1993

Surgical correction of hypertelorism. Report of 40 cases.

Forty patients with hypertelorism seen in the past 16 years were reviewed retrospectively. Combined intra- and extracranial surgical approach was used for 37 severe and moderate cases and subcranial approach (U-osteotomy) for 3 moderate cases. Gratifying results were obtained in patients with different types of hypertelorism by a multidisciplinary team. Complications were also reviewed. Of the 37 cases of intra- and extracranial corrections, 1 died, 4 had cerebrospinal fluid leakage and 4 had keratitis. No seizure, cerebral edema, meningitis, blindness, and ptosis occurred in this series. The average age was 13 years and two months. Operating time averaged 6 hours and 50 minutes. Hypertelorism was mostly attributable to craniofacial cleft, craniosynostosis, frontoethmoidal meningoencephalocele, frontonasal fibrous dysplasia, and trauma. Satisfactory esthetic appearance was achieved in most of the cases.

Adolescent↗
PubMed1998

Teebi hypertelorism syndrome with tetralogy of Fallot.

A 34-month-old boy presented with clinical manifestations of Teebi hypertelorism syndrome including prominent forehead with frontal bossing, hypertelorism, exophthalmos due to shallow orbits, a short and broad nose with anteverted nares, small hands and feet with interdigital webbing, umbilical hernia, and shawl scrotum. In addition, he had previously undescribed manifestations including tetralogy of Fallot, bilateral inguinal testes, and bifid scrotum. His phenotypically normal mother showed splayed labiae majora during her pregnancy, a possible manifestation of the syndrome.

Child, Preschool↗
PubMed2000

Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35).

A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in three previous cases in whom chromosomes were apparently normal. We report on a 3-year-old boy with HHES and a de novo apparently balanced t(2;4)(q14.2;q35) confirmed by fluorescent in situ hybridization. He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata. Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot ectrodactyly and syndactyly. All previous HHES cases were sporadic and of unknown cause. A cryptic imbalance secondary to the translocation (2;4) in our patient may explain the phenotype.

Abnormalities, Multiple↗
PubMed1995

Teebi hypertelorism syndrome: further observations.

A new autosomal dominant syndrome resembling craniofrontonasal syndrome was identified by Teebi [1987: Am J Med Genet 28:581-591]. We report on an additional case of Teebi hypertelorism syndrome. A 6-year-old girl presented with brachycephaly, peculiar facial appearance resembling mild frontonasal "dysplasia", small hands and feet with interdigital webbing. In addition, she had previously undescribed manifestations including ventricular septal defect, lipoma of the occipital area, and hypoplastic left hemisphere of the cerebellum. These seem to expand the phenotype of Teebi hypertelorism syndrome. The proposita's father had mild manifestations of the condition including flat occiput, widow's peak, small ears, bulbous nose, brachydactyly with interdigital webbing, and mild shawl scrotum.

Abnormalities, Multiple↗
PubMed2007

Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?

We report on two brothers, born to double first cousin Jordanian Arab parents, with a syndrome comprising severe hypertelorism with upslanted palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Both have severe myopia, mild to moderate sensori-neural hearing loss and borderline intelligence. Results of chromosome analysis were normal as was a FISH assay for subtelomeric rearrangements. The father has mild hypertelorism but the family history is otherwise unremarkable. We think that this represents a previously unrecognized autosomal or X-linked recessive syndrome.

Bone Diseases, Developmental↗
PubMedDate not supplied

Prenatal treatment of fetal hydrops associated with the hypertelorism-dysphagia syndrome (Opitz-G syndrome).

Non-immunological fetal hydrops diagnosed prenatally presents a difficult diagnostic and therapeutic problem. In the case presented, fetal hydrops was recognized at 19 weeks gestation and no specific cause was found prenatally in spite of extensive investigations. The fetal hydrops was treated in utero by thoracocentesis and an intravenous infusion of albumin carried out at fetoscopy. After birth the infant was recognized to have the hypertelorism-dysphagia syndrome (or Opitz-G syndrome, McK no. 30710). This autosomal dominant syndrome consists of hypertelorism, laryngeal abnormalities, swallowing difficulties, hyprospadias and an imperforate anus. Fetal hydrops has been reported on one previous occasion in this syndrome. The intrauterine treatment given in this case may have been successful in reducing the neonatal complications of the Opitz-G syndrome.

Adult↗
PubMedDate not supplied

Correction of orbital hypertelorism in Asian patients.

In this article, correction of orbital hypertelorism in Oriental patients is summarized. An orbital osteotomy is currently used to correct an abnormally wide interorbital distance. At present, associated deformities such as a short nose and a depression deformity in the temporal region following orbital osteotomy can be partially corrected. In Oriental patients, the Mongolian fold can be enhanced after correction of orbital hypertelorism. This fold can be easily corrected by epicantoplasty.

Asian People↗
PubMed2000

Hypospadias-hypertelorism syndrome.

A young male child presented with hypospadias. Examination revealed additional anomalies including hypertelorism and upslanting of palpebral fissures, suggesting a diagnosis of hypospadias-hypertelorism syndrome. The case is reported because of its rarity and some unusual features.

Child, Preschool↗
PubMed1987

A new method for the correction of hypertelorism with preservation of the olfactory nerve filaments.

A method for the preservation of the olfactory nerve filaments in cases of hypertelorism correction is described. The cribriform plate is completely resected and the nerve filaments gathered in the midline after medial rotation of the orbits. In contrast to Converse's (1970) procedure of paramedian osteotomies the method allows full correction of all degrees of hypertelorism, even in the most extreme cases, without olfactory nerve impairment.

Bone Diseases, Developmental↗
PubMed1980

The pulley canthopexy for residual telecanthus after hypertelorism repair or facial trauma.

The onset of canthal drift after hypertelorism repair can nullify the effectiveness of the repair, despite roentgenographic evidence of normal interorbital distance. The problem of hypertelorism is simply replaced by the problem of telecanthus. An excess of bulky tissue between the orbits contributes to the problem. A procedure is described in which excess soft tissue (fat, nasal muscles, and parts of the orbicularis oculi) are excised. A pulley canthopexy with a figure-of-eight suture of polypropylene is performed to bring the canthal tendons together using a hollow awl with a removable handle. The pulley gives a 4 to 1 mechanical advantage to the suture, adding control and distributing the forces over a wider area. The pulley canthopexy is a valuable tool not only in congenital anomalies but also for correcting long-standing traumatic telecanthus and acute detachment of the canthal ligaments.

Craniofacial Dysostosis↗
PubMed1997

Late results of hypertelorism correction.

The late results of patients who were operated on for the correction of hypertelorism were evaluated. Follow-up ranged between 1 and 11 years (mean, 4.3 years). The mean interorbital distance was 32.9 mm preoperatively and 26.7 mm postoperatively. The significant decrease in the interorbital distance and the absence of serious postoperative complications revealed that craniofacial surgery for the correction of hypertelorism was an effective and reliable procedure.

Adolescent↗
PubMed1998

Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia. The present observations further suggest that these syndromes are the variable expression of a single autosomal recessive disorder.

Abnormalities, Multiple↗
PubMed1975

Correction of ocular hypertelorism.

36 patients with congenital hypertelorism, eight with Crouzon's disease, and three with a posttraumatic deformity, were operated with Tessier's technique with some modifications, i.e. the dura is not separated from the cribriform plate avoiding olfactory damage. The entire procedure for hypertelorism could be carried out in less than 5 h but correction of Crouzon's disease required 6-8 h, and longer in older patients. There was only one intraoperative anesthesic death in a 3-year-old child. One cardiac arrest recovered. Nine staphylococcus infections were superficial and readily treated. There was postoperative cerebral edema in one case and convulsions following surgery in another. Anticonvulsants and steroids were subsequently routinely employed. There were no SF fistulas. Excellent cosmetic results are due primarily to the skill of the plastic surgeons.

Craniofacial Dysostosis↗
PubMed1984

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.

Bone Diseases, Developmental↗