Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.

Hemifacial microsomia (HFM) is a common birth defect involving first and second branchial arch derivatives. The phenotype is extremely variable. In addition to craniofacial anomalies there may be cardiac, vertebral and central nervous system defects. The majority of cases are sporadic, but there is substantial evidence for genetic involvement in this condition, including rare familial cases that exhibit autosomal dominant inheritance. As an approach towards identifying molecular pathways involved in ear and facial development, we have ascertained both familial and sporadic cases of HFM. A genome wide search for linkage in two families with features of HFM was performed to identify the disease loci. In one family data were highly suggestive of linkage to a region of approximately 10.7 cM on chromosome 14q32, with a maximum multipoint lod score of 3.00 between microsatellite markers D14S987 and D14S65. This locus harbours the Goosecoid gene, an excellent candidate for HFM based on mouse expression and phenotype data. Coding region mutations were sought in the familial cases and in 120 sporadic cases, and gross rearrangements of the gene were excluded by Southern blotting. Evidence for genetic heterogeneity is provided by the second family, in which linkage was excluded from this region.

Osseointegrated implants as an adjunct to facemask therapy: a case report.

Branemark Implants were placed in the zygomatic buttresses of the maxilla in a 12-year and 1-month-old female patient with a Class III malocclusion caused by maxillary growth retardation secondary to repair of a unilateral cleft lip and palate defect. The implants were left to integrate for 6 months followed by placement of customized abutments that projected into the buccal sulcus. Elastic traction (400 g per side) was applied from a facemask to the implants at 30 degrees to the occlusal plane for 14 hours per day for 8 months (ages 12 years and 10 months to 13 years and 6 months). The maxilla moved downward and forward 4 mm rotating anteriorly as it was displaced. The change in the maxillary occlusal plane resulted in a secondary opening of the mandible. There was a 2 degrees increase in the SN-mandibular plane angle and an increase in nasion to menton distance of 9 mm. Clinically, this resulted in an increase in fullness of the infraorbital region and correction of the pretreatment mandibular prognathism. There was an increase in nasal prominence as the maxilla advanced. This contributed to the increase in facial convexity. The secondary dental change frequently seen in standard facemask therapy was avoided. The displacement of the maxilla was stable 1 year beyond cessation of facemask therapy. The patient's midface profile was improved by age of 13 years and 6 months. Details of the clinical procedure and treatment changes are presented.

Relationship between difficult tracheal intubation and obstructive sleep apnoea.

The upper airway abnormalities predisposing to difficult tracheal intubation may also predispose to obstructive sleep apnoea (OSA). The potential association is important as both conditions increase perioperative risk and patients with a trachea that is difficult to intubate may need assessment for OSA. We determined if patients with difficult intubation are at greater risk of OSA and, if so, whether or not they have characteristic clinical or radiographic upper airway changes. We studied 15 patients in whom the trachea was difficult to intubate and 15 control patients. Each was evaluated clinically (Mallampati score, thyromental distance, neck circumference, head extension), polysomnographically (apnoea-hypoponea index (AHI)) and radiographically (lateral cephalometry). AHI was greater in the difficult intubation group (mean 28.4 (SD 31.7)) compared with controls (5.9 (8.9)) (P < 0.02); eight of 15 patients in the difficult intubation group and two of 15 in the control group had an AHI > 10 (P < 0.03). Difficult intubation, but not OSA, was associated (P < 0.05) with a smaller thyromental distance and mandibular length, and greater soft palate length. Both difficult intubation and OSA were associated (P < 0.05) with a greater Mallampati score, anterior mandibular depth, and smaller mandibular and cervical angles. OSA, but not difficult intubation, was associated (P < 0.05) with increased neck circumference, tongue area and craniocervical angle, and decreased head extension, mandibular ramus length and atlantooccipital distance. We conclude that difficult intubation and OSA are related significantly. They share anatomical features which act to reduce the skeletal confines of the tongue. Patients with OSA may compensate, when awake, by increasing craniocervical angulation, which increases the space between the mandible and cervical spine and elongates the tongue and soft tissues of the neck.

Dentofacial features of a family with Crouzon syndrome. Case reports.

Crouzon syndrome is an autosomal dominant condition characterized by craniosynostosis with associated dentofacial anomalies. This paper describes the variable clinical features in affected individuals over two generations of a family with particular reference to the dentofacial deformities and discussion of management strategies.

Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.

Hemifacial microsomia is a rare dentofacial anomaly which is regarded as a separate entity to Goldenhar syndrome and primarily affects the structures of the first branchial arch. It has a heterogeneous aetiology and tends to occur sporadically, though positive family histories have been reported. This paper reports on individuals in two generations of a family that has overlapping features of hemifacial microsomia and Goldenhar syndrome segregating as an autosomal dominant condition.

Hereditary gingival fibromatosis with a recessive mode of inheritance. Case reports.

Hereditary gingival fibromatosis is characterized by varying degrees of attached gingival hyperplasia and may in rare cases present as a feature of a generalized syndrome. It is usually inherited as an autosomal dominant condition though recessive forms are described. The dental and genetic features of an affected brother and sister with a probably unique autosomal recessive hereditary fibromatosis syndrome are presented.

Autosomal recessive gingival fibromatosis with distinctive facies.

Hereditary gingival fibromatosis is a rare condition occurring as an isolated anomaly or as part of a genetic syndrome. The isolated or syndromic disorders are usually inherited in an autosomal dominant manner, but an autosomal recessive form has been suggested. We report on male and female siblings who have gingival fibromatosis in association with specific facial dysmorphism. Their phenotype is depicted and described to document this hitherto unreported autosomal recessive gingival fibromatosis syndrome.

Accuracy of echocardiography versus electrocardiography in detecting left ventricular hypertrophy: comparison with postmortem mass measurements.

The accuracy of electrocardiography, M-mode echocardiography and two-dimensional echocardiography in predicting left ventricular hypertrophy was compared in 50 patients who came to autopsy within 6 months after the studies were performed. Several methods for determining left ventricular hypertrophy were examined for each of the three techniques. M-mode echocardiography was technically adequate to evaluate the presence or absence of left ventricular hypertrophy more often than either electrocardiography or two-dimensional echocardiography. Measurements from M-mode echocardiography also correlated best with autopsy measurements. Both echocardiographic techniques had a higher sensitivity than electrocardiographic criteria in diagnosing left ventricular hypertrophy. Two-dimensional echocardiography was not shown to improve the M-mode assessment of left ventricular hypertrophy. In an attempt to simplify both M-mode left ventricular mass calculations and the diagnosis of left ventricular hypertrophy for the clinician, a left ventricular mass nomogram was constructed, enabling quick insertion of standard M-mode echocardiographic measurements.