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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Visual loss in patients with craniofacial synostosis. 175 62

Ten infants and children who presented with craniofacial dysostosis are discussed; four had Apert's syndrome, four had Crouzon's syndrome, one had Pfeiffer's syndrome, and one had hypertelorism. The follow-up of the patients ranged from 3 months to 7 years, with an average of 19 months. Patients had bifrontal and biparietal craniectomies to correct frontal and temporal orbital retrusion, while two had left unilateral procedures only. One patient (T.S.) had had three similar procedures before he was 3 years old and patient B.B. had two before he was 11 months old due to the complete failure of bony orbital growth. Before the cranial surgery, one patient had a preexisting esotropia with bilateral congenital sixth nerve paresis, one had a V-pattern exotropia, and one had a right intermittent hypotropia due to right superior rectus weakness. In no case was there a change in the ocular alignment after infantile craniectomy. There were assorted ophthalmologic anomalies, such as congenital bilateral sixth nerve paresis, absent superior rectus function, bilateral ptosis in addition to absent superior rectus function, and two patients presented with frank and repeated exorbitism.
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PMID:Strabismus in craniofacial dysostosis. 340 45

The authors describe three cases of familial acrocephalosyndactyly (ACS) in two boys (9 and 3 years of age) and in their 7.5-year old sister. In addition, irregularities in skull and limbs were found in the 46-year old father as well as in two other children, i.e., two girls, 14 and 4 years of age. The mother (46 years-old) and the remaining four 4 boys (12-, 9-, and 7-years-old), as well as the youngest child, a son, 1-year-old) did not show any deviations. The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet. In addition, deformed chest, weight and height deficiency, significant mental retardation, as well as, in the boys, true cryptorchidism were found. Radiological examination showed, in all affected members of the family, intensified digitate impressions within the whole fornix of the skull, large and deep sella turcica, underdeveloped frontal bone and upper jaw bone, untypical syndactyly of hands and feet, and the partial bifid of distal phalanges of the great toes, not described previously in the Saethre-Chotzen syndrome. In the differential diagnosis, other forms of ACS, i.e., Apert, Vogt, Pfeiffer, Summitt, and Herrmann-Opitz syndromes, were not found. Manifestation of the described symptoms transferred autosomally, dominantly, and with a similar degree of expression in 6 of 11 members of one family, leads us to think that they are the consequence of a fresh mutation revealed in the father.
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PMID:The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family. 745 Jul 76

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

A 38-year-old man presented with an unusual complaint of spontaneous left ocular prolapse, which had occurred while scratching his lower eyelid. He was noted to have an atypical facial appearance with frontal bossing and maxillary hypoplasia. Examination of the hands revealed bilateral syndactyly, suggesting a diagnosis of acrocephalosyndactyly. While it is common for eyes to prolapse in childhood in Crouzon or Apert syndrome, it is unusual for them to present in this way in middle age. It may be that age-related loss of tissue elasticity and consequent lower eyelid laxity decreased the inferior support of the globe, explaining the late presentation.
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PMID:Spontaneous ocular prolapse as an unusual late presentation of acrocephalosyndactyly. 1788 1

Crouzon and Apert syndromes are frequently complicated by ocular abnormalities and patients with these syndromes often present with abnormal ocular morphology. The present study assesses orbital volume and ocular complications in patients associated with Crouzon and Apert syndromes.During an 8-year period starting in 2002, fronto-orbital advancement was used for cranial expansion on 23 cases of syndromic craniosynostosis. Of those, it was possible to evaluate 5 Crouzon and eight Apert syndrome cases. Orbital volume was measured using multislice CT scans. Both preoperative and postoperative orbital volumes were compared with normal orbital volume.Preoperative orbital volume was 5.8 to 10.0 cm (mean, 7.1 cm) in patients with Crouzon syndrome and 7.2 to 10.8 cm (mean, 9.1 cm) in patients with Apert syndrome. Postoperative intraorbital volume was 9.4 to 11.2 cm (mean, 10.4 cm) in patients with Crouzon syndrome and 11.6 to 13.2 cm (mean, 12.4 cm) in patients with Apert syndrome. The mean of orbital volume relative to the normal volume was 58% preoperatively and 74% postoperatively in patients with Crouzon syndrome and 69% (56-81%) preoperatively and 88% (81-95%) postoperatively in patients with Apert syndrome.In conclusion, orbital volume was smaller in the Crouzon syndrome group than in the Apert syndrome group, and symptoms, such as exophthalmos and exotropia, were noted in the Crouzon syndrome group. Orbit expansion did not fully restore normal orbital volume, but in most cases, it was useful for alleviation of preoperative symptoms (exophthalmos/eyeball prolapse, corneal erosion, conjunctivitis).
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PMID:Preoperative and postoperative orbital volume in patients with Crouzon and Apert syndrome. 2334 83