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At least 613 records · Page 34Linked to original sources
PubMed2006

Robin sequence: a retrospective review of 115 patients.

OBJECTIVES: Review a large series of patients with Robin sequence to document the incidence of (1) associated syndromic diagnoses; (2) co-morbid conditions; (3) frequency and type of operative management for airway compromise and feeding difficulties; and (4) possible differences in treatment between syndromic and nonsyndromic infants. METHODS: Retrospective case-review of 115 patients with Robin sequence managed between 1962 and 2002 at two tertiary-care teaching hospitals for evaluation of demographic information, clinical findings, and treatment interventions. RESULTS: Fifty-four percent (N=63) of patients were nonsyndromic. Syndromic patients included: Stickler syndrome (18%), velocardiofacial syndrome (7%), Treacher-Collins (5%), facial and hemifacial microsomia (3%), and other defined (3.5%) and undefined (9%) disorders. There was no statistical difference between the syndromic and nonsyndromic patients with regard to need for operative airway management (Fisher's exact test, p=0.264). Forty-two percent of patients required a feeding gastrostomy tube to correct feeding difficulties. Patients with a syndromic diagnosis were more likely to be developmentally delayed. Fifty-one (44%) patients underwent operative airway management: 61% underwent tongue-lip adhesion and 39% underwent tracheotomy. Fifteen percent of patients initially had tongue-lip adhesion subsequently required tracheotomy. While the preferred treatment for respiratory compromise differed between the two institutions, the percentage of patients requiring operative intervention was similar. CONCLUSIONS: The pathogenesis of Robin sequence is multifactorial and syndromic in nearly half of the patients. Operative treatment of respiratory failure was required in 44% of infants; the rate was similar in both hospitals. The operative approach differed significantly between the institutions, however, based on the philosophy and training of the managing surgical specialty. Co-morbid factors such as baseline cardiopulmonary and neurologic status did not play a significant role in surgical decision making.

Airway Obstruction↗
PubMed2005

Analysis of skeletal movements in mandibular distraction osteogenesis.

PURPOSE: The purpose of this study was to use geometric parameters of movement, calculated from 3-dimensional computed tomography (CT) data, to determine the curvilinear distractor dimensions required to correct mandibular deformities in a series of patients. MATERIALS AND METHODS: Preoperative CT scans from 15 patients with symmetric (n = 5) and asymmetric (n = 10) deformities were imported into a CT-based software program (Osteoplan; an open-source visualization application developed by Gering et al at the Surgical Planning Laboratory [SPL, Brigham and Womens Hospital, Boston, MA]). The software was used to reconstruct virtual 3-dimensional models from these scans. Two experienced surgeons, working with a computer scientist, then used Osteoplan to create an ideal treatment plan for each patient. In each case, the 3-dimensional curvilinear movement was quantified using 4 "parameters of movement" (POMs). These parameters were then used to prescribe a distraction device capable of executing the planned skeletal correction. Curvilinear distractor dimensions calculated by Osteoplan included the radius of curvature of the prescribed device, and the distractor elongation, pitch, and handedness. RESULTS: Treatment plans including POMs were developed for each patient. The radii of curvature for the prescribed distractors ranged from 2.3 to 14.1 cm, the distractor elongation dimensions ranged from 0.7 to 3.2 cm, and the pitch (horizontal plane) dimensions ranged from 0.005 to 0.8 cm. Handedness was either a left (n = 12) or right (n = 8) turning helix. CONCLUSION: The results of this study indicate that, using geometric parameters of movement calculated from 3-dimensional CT scans, curvilinear devices could be prescribed for correction of the range of skeletal deformities in this group of patients.

Computer Simulation↗
PubMed2006

Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome.

OBJECTIVE: To examine the prevalence of dental anomalies in the deciduous and permanent teeth, ectopic eruption of permanent first molars, and associated oral malformations in individuals with Treacher Collins syndrome. STUDY DESIGN: Clinical and radiographic examination of 15 patients with Treacher Collins syndrome, from the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo, not submitted to orthodontic or orthognathic treatment. RESULTS: Dental anomalies were present in 60% of the sample, with 1-8 anomalies per individual. Hypoplastic dental anomalies were the most common, followed by heterotopic and hyperplastic dental alterations. The most frequent anomalies were tooth agenesis (33.3%), mainly affecting the mandibular second premolars, and enamel opacities (20% of patients). Ectopic eruption of the maxillary first molars was found in 13.3% of subjects. Associated oral malformations, primarily isolated cleft palate, followed by complete cleft lip and palate and macrostomia, were observed in 66.7% of patients. CONCLUSIONS: Presence of cleft palate associated with the syndrome is in agreement with the literature. The high prevalence of dental anomalies suggests a possible etiologic relationship, not described in the literature so far, between such alterations and the Treacher Collins syndrome. Further investigations on larger samples are required to confirm these results.

Adolescent↗
PubMed1980

Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality.

An infant with the features of Hallermann-Streiff syndrome also had the previously unreported ocular signs of sclerocornea, buphthalmos, congenital glaucoma, and aniridia. Chromosome analysis revealed an elongation of one of the arms of the tenth chromosome. The infant was the product of a consanguinous marriage between distant cousins and a distant cousin of the patient also had the typical features of the Hallermann-Streiff syndrome.

Adult↗
PubMed1990

Ocular findings in Treacher Collins syndrome.

We examined 14 patients from nine families referred with the diagnosis of Treacher Collins syndrome. We noted seven significant ocular findings including the following: a subnormal horizontal palpebral fissure length and inferomedial displacement of the lateral canthus in primary gaze; further medial displacement (4.0 mm or more) of the lateral canthus with resultant shortening of the horizontal fissure length on forced eyelid closure (fissure narrowing sign); partial-thickness eyelid colobomata localized to the nasal one half to two thirds of the lower eyelids; bilateral absence of the inferior lacrimal puncta; bilateral blepharoptosis; inferior displacement of the palpebral fissures; and regular astigmatism without any consistent orientation of the axis of astigmatism relative to the lower eyelid defects, blepharoptosis, or lateral canthus. The fissure narrowing sign correlates with known anatomic deficiencies in the Treacher Collins syndrome and may prove valuable in confirming the diagnosis in patients who lack certain typical features.

Adolescent↗
PubMed1978

Neuroparalytic keratitis in Goldenhar-Gorlin syndrome.

A 2-year-old boy had bilateral corneal ulceration with the Goldenhar-Gorlin syndrome. Initially, the patient received subconjunctival and topical antibiotics with minimal effect. With subsequent treatment of atropine, sterile ophthalmic petrolatum ointment, and humidification of the patient's crib, ulcers in both eyes healed in two weeks without further problems. He had a neuroparalytic keratitis with corneal anesthesia and decreased tear production bilaterally. Our evidence suggested that aplasia or hypoplasia of the trigeminal nuclei was the probable cause.

Abnormalities, Multiple↗
PubMed1977

Familial osteosclerosis with abnormalities of the nervous system and meninges.

A mother and daughter with osteosclerotic dysplasia are described. The daughter had generalized osteosclerosis, flattening of the angles of the mandibles, high-arched palate, mandibular and facial bone hypoplasia, a large sella turcica, and spacious foramen magnum, platybasia, basilar impression, widened spinal cord with enlarged intervertebral foramina, and scalloping of the posterior surfaces of the vertebral bodies. Radiographic contrast studies and operative intervention revealed multiple thoracic and lumbar meningoceles and an "empty" sella, as well as evidence of maldevelopment of the spinal cord, cerebellum, and cerebral cortex. Many of these skeletal features were noted to a lesser degree in the asymptomatic mother.

Abnormalities, Multiple↗