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PubMed1999

Quantitative assessment of osseous, ocular, and periocular changes after hypertelorism surgery.

The purpose of this study was to develop a methodology to quantify osseous, ocular, and periocular fat changes caused by correction of orbital hypertelorism to test the hypothesis that there is a quantitatively predictable relationship between the movement of the osseous orbit and that of the ocular globe. A retrospective review was performed of 10 patients who were status post unilateral or bilateral transcranial medial orbital translocation, for whom there were archival digital data for preoperative and postoperative (mean interval = 30 months) three-dimensional computed tomographic (CT) scans. In addition to standard demographic and surgical data, the clinical preoperative and postoperative interpupillary and intermedial canthal distances were recorded. By using a computer graphics workstation, the CT digital data were registered to four surgically unaltered anatomic fiducial points to allow longitudinal quantitative comparisons. The following three-dimensional measurements were made for each patient preoperatively and postoperatively: interdacryon and interocular centroid distances, and on a standard series of three horizontal and two vertical planes, the position of the medial and lateral orbital walls, and the thickness of the medial and lateral periorbital fat (20 orbits). CT digital distances were compared with similar clinical distances when possible. The age at operation ranged from 4.0 to 12.5 years (mean, 6.6 years). The reduction in interdacryon distance exceeded the reduction in intercentroid distance (mean interdacryon change = -5.3 mm versus mean intercentroid change = -2.7 mm). Although there was a strong correlation between the amount of reduction of the lateral orbital wall and intercentroid distances, there was only a moderate correlation between the reduction in the intercentroid distance and that of the medial orbital wall. Similarly, there was a moderate correlation between the decrease in thickness of the lateral periorbital fat and the reduction of intercentroid distance but not of the medial orbital fat. In conclusion, medial translocation of the orbit does not produce equivalent movement of the ocular globe; neither the intermedial canthal nor the interdacryon distance is a useful predictor of ocular centroid position; and if the goal of hypertelorism operation is reduction of interocular distance, then CT measurement of globe intercentroid distance is essential for outcome assessment.

Adipose Tissue↗
PubMed2006

[Establishment of rabbit orbital hypertelorism model and evaluation of effects of surgical correction].

OBJECTIVE: To establish a rabbit model of orbital hypertelorism for plastic and reconstructive surgery and evaluate the surgical effects. METHODS: Orbital osteotomies and medial translocation was performed in 16 New Zealand rabbits (4 to 6 months old) by combined intracranial-extracranial approach. The interorbital distance (IOD) and bone healing between the orbits were evaluated with gross measurement. X-ray and histological examinations were performed immediately and 12 weeks after the operation. RESULTS: The average IOD of the rabbits was 0.74 cm after completion of the operation, but increased to 0.96 cm 12 weeks after the operation, showing significant relapse of orbital hypertelorism (P<0.01). CONCLUSION: The IOD can be decreased successfully in this rabbit model.

Animals↗
PubMed1991

The skeletal treatment of orbital hypertelorism.

Orbital hypertelorism, strictly defined as an increase in bony interorbital distance, is not itself an isolated syndrome, but is instead an anomaly that may occur as either part of a syndrome or malformation sequence. Evaluation of orbital hypertelorism and the various anomalies that accompany it is best performed by a multidisciplinary craniofacial team. The timing of surgery involves considerations of multiple variables, but when performed can offer marked cosmetic improvements. Equally important as the skeletal surgery is correction of the associated soft-tissue problems.

Child↗
PubMed1990

Hypertelorism correction in the young child.

This series reports on 20 patients who underwent orbital hypertelorism correction under 5.3 years of age (average age 3.9 years). The patients were followed an average of 5 years, and six patients were followed in excess of 7 years with clinical and cephalometric parameters. The study demonstrated that the procedure could be safely performed at this age and was aesthetically desirable. There was minimal clinical or cephalometric evidence of skeletal orbital relapse except in three patients, for whom individual explanations are given. During the period of postoperative study, nasomaxillary growth and development proceeded as expected, except in those patients with associated clefting. All patients demonstrated increased cranial width measurements preoperatively and postoperatively, but bigonial and bimastoid measurements were generally within normal range. Excessive resection of nasoglabellar skin at the time of hypertelorism correction appeared to adversely affect nasal development.

Bone Diseases, Developmental↗
PubMed1994

Teebi hypertelorism syndrome: report of a third family.

We report a mother and daughter who have hypertelorism, mild limb defects, umbilical hernia/omphalocele, natal teeth and minor craniofacial anomalies. These individuals represent the third family with Teebi hypertelorism syndrome, a rare autosomal dominant syndrome.

Abnormalities, Multiple↗
PubMed1997

Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13.

A de novo apparently balanced translocation involving chromosomes 8 and 20 was found in a 14-year-old boy with minor anomalies, mild skeletal abnormalities and ambiguous external genitalia including perineoscrotal hypospadias, rudimentary fused labioscrotal folds, bilateral cryptorchidism, and small penis. The karyotype was 46,XY, t(8;20)(q22.3-23;p13). No signs of other conditions known to be associated with structural anomalies of either chromosome 8 or 20 were present and incomplete masculinisation of the external genitalia appears to be the main component of the phenotype. Clinical and biological studies showed apparently normal testicular function in utero and after birth. Examinations excluded 5 alpha-reductase deficiency or a block in any enzymatic steps of testosterone, glucocorticoid and mineralocorticoid biosynthesis. Coding sequences of the sex-determining gene (SRY) and androgen receptor gene (AR) were found to be identical to those of a normal male excluding their role in the cause of the present condition. Since several other reports describe the association of hypospadias and hypertelorism with deletions or translocations involving 8q, we suggest that a locus necessary for male sex differentiation is located at distal 8q.

Abnormalities, Multiple↗
PubMed1997

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.

We describe a male patient with wide anterior fontanel and metopic suture, hypertelorism, down slanting palpebral fissures, bilateral iris coloboma, omphalocele, and bilateral absence of the diaphragm with herniation of abdominal organs causing pulmonary hypoplasia and death. Autopsy also showed intestinal malrotation. All findings in this case are consistent with those described as a newly recognized syndrome by Donnai and Barrow [1993]. Since the parents are first cousins, this case provides further evidence for the previously postulated autosomal recessive inheritance pattern. Follow-up on the patients and families reported by Donnai and Barrow [1993] also supports autosomal recessive inheritance.

Adult↗
PubMed1999

XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.

Abnormalities, Multiple↗
PubMed2001

Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8).

We describe two sibs with the unbalanced translocation der(6)t(6;8)(p25.1;q24.23), making them monosomic for 6p25.1-->6pter and trisomic for 8q24.23-->8qter. The siblings both possess Axenfeld-Rieger Anomaly (ARA), hypertelorism, clinodactyly, and cardiac anomalies, but otherwise vary in the phenotypic manifestations of this unbalanced translocation. We compare them to previously described cases and a recently proposed syndrome of ARA, atrial septal defect, and sensorineural deafness.

Abnormalities, Multiple↗
PubMed1982

Gastro-cutaneous syndrome: peptic ulcer/hiatal hernia, multiple lentigines/café-au-lait spots, hypertelorism, and myopia.

We report the familial occurrence in a French Canadian family of peptic ulcer/hiatal hernia, multiple lentigines/café-au-lait spots, apparent hypertelorism, and myopia caused by a pleiotropic autosomal dominant gene with high penetrance and variable expressivity. Other probable but rarer components of the syndrome include ischemic heart disease, congenital heart disease, and maturity onset diabetes. Symptoms of peptic ulcer/hiatal hernia usually started in the second or third decade and were associated, as least in some examined individuals, with relatively increased acid secretion and abnormal dermatoglyphics.

Adolescent↗
PubMed1991

New X-linked syndrome of mental retardation, short stature, and hypertelorism.

We present a three-generation family with five retarded, abnormally appearing males and two abnormally appearing females (presumably manifesting carriers). The phenotype of the patients is different from that of all other previously described types of X-linked mental retardation (XLMR). The patients had prominent forehead, frontal bossing, hypertelorism, broad nasal tip, and anteverted nares. Chromosomes were normal including fragile X analysis. Skeletal roentgenograms were normal.

Body Height↗
PubMed1991

New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies.

We report on a mother and son with a similar syndrome of hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low-set prominent ears. The son also has a hypoplastic shawl scrotum, cryptorchidism, and genu valgum. His language development was delayed at 18 months, but subsequently improved and was normal at age 3. The mother has the additional findings of marked cubitus valgus, hyper-extensible joints, dull normal intelligence and a bleeding diathesis. This pattern of multiple congenital anomalies may represent a new syndrome.

Abnormalities, Multiple↗
PubMed1993

Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

We describe unrelated male and female patients with an identical syndrome of diaphragmatic hernia, exomphalos, hypertelorism, agenesis of the corpus callosum, severe sensorineural deafness, and severe myopia. One child had an iris coloboma. After the birth of the first affected child in each family subsequent pregnancies were monitored with ultrasound scan and a further affected fetus was identified in both families. We conclude that this constellation of anomalies represents a distinct, previously unreported syndrome with likely autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1994

Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia.

We present a child with an MCA pattern of sclerocornea, hypertelorism, pterygium colli, upper limb syndactyly, ambiguous genitalia, abnormal ears and nose, umbilical hernia, congenital heart disease, and normal chromosomes (46,XX). Although the defects observed in this case follow the diagnostic criteria for Fraser syndrome proposed by Thomas et al. [1986: Am J Med Genet 25:85-98], we think that this is a different entity.

Abnormalities, Multiple↗
PubMed1995

New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay.

We describe a boy with an apparently unique constellation of anomalies, including macrocephaly, short stature, relatively short limbs, hearing loss, developmental delay, sparse anterior scalp hair, hypertelorism, downslanting palpebral fissures, and a short nose with a broad, flat nasal bridge and anteverted nares. Chromosomes were normal and radiographs failed to show a bone dysplasia. We conclude that this represents a new syndrome.

Abnormalities, Multiple↗