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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with classical Apert's syndrome is discussed along with the finding of absent superior rectus muscle. This anomaly may be more common than thought, especially in relation to craniofacial anomalies. A review of Apert's syndrome and superior rectus agenesis is presented.
J Pediatr Ophthalmol Strabismus
PMID:Absence of the superior rectus muscle in Apert's syndrome. 52 75

We reviewed the ocular findings in patients with cranial stenosis, who were seen in the Craniofacial Clinic at The Children's Hospital of Philadelphia, to determine the prevalence, pattern, and etiology of visual loss. There were 15 patients with Apert syndrome, 25 patients with Crouzon syndrome, and 18 patients with other forms of craniofacial synostoses. Visual loss occurred in 17 eyes of 11 patients with Apert syndrome, 14 eyes of 11 patients with Crouzon syndrome, and 12 eyes of 8 patients with other craniofacial synostosis syndromes. Refractive errors and strabismus were present in the majority of these patients. Amblyopia due to strabismus, ametropia, or ptosis was the major reason for visual loss in all three groups of patients. Structural abnormalities contributed to loss of vision in six eyes.
J Pediatr Ophthalmol Strabismus
PMID:Visual loss in patients with craniofacial synostosis. 175 62

Patients with Apert syndrome inevitably have ocular problems. These include proptosis, strabismus, amblyopia, optic atrophy, and occasionally papilledema. Visual loss or blindness is a real possibility and can be avoided. Craniofacial surgery, while alleviating proptosis, may cause an alteration in strabismus, visual loss, and tearing problems. These children should always be assessed and followed by an ophthalmologist as part of the craniofacial team.
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PMID:Ocular aspects of Apert syndrome. 206 92

Apert-Crouzon syndrome (formerly ACS type 2; 10130) is now considered a subset of autosomal dominant Apert acrocephalosyndactyly type 1 (10120), with features of craniosynostoisis, syndactyly of all extremities, maxillary hypoplasia, "parrot-beaked" nose, hypertelorism, exophthalmos, external strabismus, and short upper lip. We report a 3 1/2-month-old infant with features of Apert syndrome, plus thoracic vertebral anomalies radiographically similar to those seen in spondylothoracic dysplasia, a condition in which block thoracic vertebrae with widely open neural arches and a fan-shaped thoracic cage are found. Our patient also had flared metaphyseal ends of humeri, dislocated radii with immobile elbows, an unusual tail-like protuberance in the coccygeal area, and a solid cartilaginous tracheal wall. To date, in ongoing reviews of radiographs of other patients with acrocephalosyndactyly or acrocephalopolysyndactyly complexes and of relevant literature, we have not identified other patients with these findings. The vertebrae and intervertebral discs of the patient in this report, three patients with Jarcho-Levin syndrome, and one with Apert syndrome were measured from anteroposterior chest radiographs; the findings clearly distinguish the condition in our patient from Jarcho-Levin syndrome or Apert syndrome.
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PMID:Acrocephalospondylosyndactyly--a possible new syndrome: analysis of the vertebral and intervertebral components. 231 26

Craniofacial surgery can radically correct the most severe dysmorphias of fronto nasal encephaloceles, trigonocephaly, plagiocephaly, telorbitism, Crouzon, Apert, Chotzen... Its procedures can make to normal their general morphology, the projection of the mid face and maxilla, centering and inter relationship of the orbital cavities. It can also correct or improve many dysfunctions such as : naso-pharyngeal atresia, dental malocclusion, exorbitism, exotropia and, consequently, strabismus. According to syndromes and degree of severity, craniofacial surgery is undertaken between 2 to 10 years of age. This surgery is both cranial and facial, it uses or passes through the "orbito frontal bandeau" : glabella (frontal sinus), orbital roof, supra-orbital ridges down to the fronto-zygomatic sutures. Consequently, primary cranial surgery must not make impracticable the procedures of secondary craniofacial surgery. Consequently, the neuro-surgeon - acting as a cranial surgeon - must keep intact the "orbito-frontal bandeau" 25 mm high, orbital roof and the fronto-zygomatic sutures, included and also temporal crests and temporal muscles. When these elements have been dissected or removed, they must be replaced or reconstructed. Moreover, bone grafts assigned to the fixation or construction of the mid face are more and more often harvested from the parietal bones. Consequently, the parietal bones may be isolated by craniotomies; they must not be destroyed by craniectomies.
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PMID:[Compatibility between primary cranial surgery and secondary cranio-facial surgery (author's transl)]. 727 90

Forty-two patients with craniostenosis were evaluated for sensorimotor disturbances and related ocular findings. Subjects include patients with Crouzon's syndrome (21 patients), Apert's syndrome (14 patients), and Pfeiffer's syndrome (seven patients). Thirty-five patients had strabismus in primary position and six of the remaining seven had oculomotor disturbances in at least one field of gaze. Twenty-three patients had sensory evaluations, all demonstrating adaptations similar to that of the general populations. Since sensory adaptations can become more deeply rooted with time, these patients should receive early strabismus treatment.
J Pediatr Ophthalmol Strabismus
PMID:Sensorimotor disturbances in craniostenosis. 729 10

The absence of extraocular muscles, particularly the superior rectus1, 2 or superior oblique3, 4 has been recognized to cause strabismus among patients with craniosynostosis. Absence of multiple muscles is less common. In case 1 we note a patient with Pfieffer's syndrome and absent left superior rectus and inferior oblique, with the presence of only a vestigial left superior oblique and an underdeveloped and misinserted left inferior rectus. In case 2 we describe a patient with Apert's syndrome with bilateral absence of the superior rectus and superior oblique muscles. Unsuspected superior rectus absence led to a bilateral elevation deficit after inferior oblique weakening. Also, during the course of treatment, all 3 remaining recti muscles in 1 eye were disinserted. To our knowledge, this is the first report of absent extraocular muscles in Pfieffer's syndrome. Some evidence suggests that collateral anterior segment blood flow exists in cases of absent recti muscles. Further study is needed to determine whether all remaining muscles could be used for strabismus repair. Last, when patients with craniosynostosis require strabismus surgery, we feel that a limited exploration of all extraocular muscles should be carried out.
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PMID:Absence of multiple extraocular muscles in craniosynostosis. 1064 55

Congenital eyelid malpositions can be isolated or associated with other structures such as the eyeball, ocular muscles, and lacrimal pathways. It is important to separate eyelid malpositions, which are topographical disorders, from eyelid malformations, which are constitutional morphological disorders. Only eyelid malpositions will be described in this paper, with a distinction made between static and dynamic disorders. Static disorders include epiblepharon, congenital ectropion and entropion, epicanthus, telecanthus, and centurion syndrome. Dynamic disorders group ptosis and congenital eyelid retractions. Epiblepharon is characterized by the absence of adhesion between the lower eyelid retractors and the orbicularis-skin layer, which allows the anterior lamella to roll over. Congenital entropion and ectropion are very rare. They most often require surgical treatment. Epicanthus involves a semi-lunar fold of skin extending from the upper eyelid across the medial canthal area to the margin of the lower eyelid. Four types (supra-ciliaris, palpebralis, tarsalis and inversus) of epicanthus are described. Treatment requires surgery. Telecanthus is defined as an increased distance between canthi. Primary telecanthus results from attenuation of the medial canthal tendons and is usually associated with other soft tIssue abnormalities such as epicanthus or blepharophimosis, or is seen after trauma. Secondary telecanthus is caused by underlying bony malpositions with an abnormal separation between the orbits because of an increased thickness of the interorbital bones such as that seen in hypertelorism or in other complex craniofacial syndromes. Euryblepharon is distinguished by an enlargement of the horizontal palpebral fissure associated with enlarged eyelids. The etiology is unknown and patients may benefit from surgery. Congenital ptosis is characterized by a deficiency of the levator muscle. They are most often unilateral and isolated. When associated with other abnormalities such as squint, synkinesis, blepharophimosis, or craniofacial syndromes, surgical treatment may require several-stage procedures. On the other hand, isolated congenital ptosis is usually treated in childhood (3-6 years) in a single stage. Congenital eyelid retractions may affect either the lower or the upper eyelid. They make up a rare condition and most cases are associated with craniofacial syndromes such as Crouzon or Apert syndromes. Upper eyelid retractions may spontaneously improve in some cases, but lower eyelid retractions do not. Treatment requires surgery, depending on the corneal consequences.
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PMID:[Surgical treatment of congenital eyelid malpositions in children]. 1503 36

Apert syndrome is mostly caused by one of the two specific point mutations in the fibroblast growth factor receptor 2 (FGFR2). The objective of this study was to determine whether there were any differences in the prevalence of ophthalmic features in Apert syndrome when comparing the Ser252Trp and Pro253Arg mutations in FGFR2. This was a retrospective study of patients with Apert syndrome with genotype analysis. The prevalence of five ophthalmic features, visual impairment, amblyopia, strabismus, corneal abnormality, and pale optic discs, were compared between the two FGFR2 genotypes. There were 25 (74%) cases with Ser252Trp mutation, and 9 (26%) cases with the Pro253Arg mutation in FGFR2. Ophthalmic findings in 20 cases of FGFR2 Ser252Trp and 9 cases of Pro253Arg mutation were compared. Visual acuity worse than 6/12 in at least one eye was present in 60% patients with FGFR2 Ser252Trp mutation compared with 12.5% patients with Pro253Arg mutation (P < 0.05). Forty percent of eyes with FGFR2 Ser252Trp mutation compared with 12.5% eyes with Pro253Arg mutation were worse than 6/12. There was a trend of more frequent amblyopia and strabismus in FGFR2 Ser252Trp mutation and more frequent optic disc pallor in the FGFR2 Pro253Arg mutation. There was a differential effect of FGFR2 mutations in ophthalmic findings in patients with Apert syndrome, with significantly greater prevalence of visual impairment in the Ser252Trp mutation compared with the Pro253Arg mutation. Further study would elucidate whether the trends in differential effects between the two mutations in amblyopia, strabismus, and optic disc pallor represent real differences.
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PMID:Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome. 1741 5

A 6-month-old patient with Apert syndrome underwent strabismus surgery for a hypertropic eye. At surgery, the patient was found to have agenesis of all four cyclovertical muscles in one eye. Further investigation by computed tomography demonstrated absence of all four cyclovertical muscles in the fellow eye as well. A transposition procedure corrected the strabismus. While isolated aberrant or missing extraocular muscles are well documented in patients with craniofacial syndromes, bilateral absence of all four cyclovertical muscles, as demonstrated in this patient, poses unique treatment challenges.
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PMID:Absence of all cyclovertical extraocular muscles in a child who has Apert syndrome. 1736 8


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