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

Craniosynostosis associated with short stature, radial and fibular aplasia, and cleft lip and/or palate represents a distinct syndrome. One original case and one previously undiagnosed case from the literature were found to have many distinct features in common, permitting them to be separated from craniosynostosis with radial or fibular aplasia, Robert's syndrome, pseudothalidomide or SC syndrome, and the hypomelia-hypotrichosis-facial hemangioma syndrome. Each had multiple craniofacial abnormalities: dysplastic ears, hypertelorism, strabismus, and malocclusion. Ulnae and humeri were hypoplastic; tibiae were bowed and hypoplastic. Testes were small. Associated mild to moderate mental retardation may be related to early institutionalization.
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PMID:Craniosynostosis associated with limb reduction malformations and cleft lip/palate: a distinct syndrome. 26 42

The Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, ptosis of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, brachydactyly and abnormal dermatoglyphic patterns. The syndrome follows an autosomal dominant mode of transmission with complete penetrance and variable expressivity. Many cases of SCS have been previously reported but erroneously diagnosed as Crouzon syndrome, "pseudo-Crouzon" syndrome, simple craniosynostis, microcephaly or other inappropriate diagnostic category. Based on the findings in 6 kindreds with 31 affected individuals and an analysis of well-documented cases from the literature, the syndrome is delineated. Close attention to minor skeletal anomalies and "incidental" findings is emphasized.
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PMID:The Saethre-Chotzen syndrome. 122 25

With the possible exception of aesthetic considerations, the visual system is more involved in craniosynostosis than any other. Changes may be an inherent feature of the pathologic process or occur as a secondary complication. Several of these are potentially devastating, resulting in substantial permanent impairment in visual function. Because these are avoidable if recognized and managed early, prompt involvement of an ophthalmologist in the care of children with craniosynostosis is essential. Improvement in the appearance of these cases cannot obscure the importance of functional problems. In particular, disc edema, optic atrophy, and progressive optic nerve dysfunction may accompany increased intracranial pressure even without evidence of hydrocephalus and even with apparently open fontanelles. Uncorrected refractive error (particularly anisometropia), strabismus, ptosis, and corneal exposure problems are an invitation to the development of amblyopia. If not reversed, this can lead to permanent visual disability. Proptosis and corneal exposure problems are a third potentially treatable cause of functional blindness. Early diagnosis and prompt care will hopefully continue to improve the prognosis for these increasingly treatable children.
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PMID:Ophthalmic features of craniosynostosis. 182 6

A girl with a high and microbrachycephalic cranium (but without craniosynostosis), antimongoloid palpebral fissures, external strabismus, microsomy, a peculiarly shaped nose, soft tissue syndactyly in the right hand and both feet, and psychomotor retardation was found to have a deletion of chromosome 2 (q35----qter) and a Robertsonian translocation 13;14 inherited from her healthy father. The girl's phenotype is compared with the only other case reported involving a similar deletion.
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PMID:A case of deletion 2q35----qter and a peculiar phenotype. 671 16

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

Trigonocephaly is a partial form of craniostenosis or rather craniofaciostenosis in which the esthetic damage is severe and early and in which the functional damage (mental retardation, strabismus) may also be severe. The former can be corrected and the latter prevented by early and appropriate surgery. A new surgical procedure for correcting uncomplicated trigonocephaly permits normal development of the skull and orbits and normal psychomotor development.
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PMID:Trigonocephaly: some clinical and surgical features. 745 83

Crouzon's syndrome is an autosomal dominant disorder characterized by premature craniosynostosis leading to multiple ocular abnormalities and vision loss. Strabismus, optic atrophy, exposure keratitis, hypertelorism, nystagmus, and unexplained visual loss have been reported. Keratoconus has been described only once previously in a patient with other ocular abnormalities. This article reports bilateral keratoconus in a patient with Crouzon's syndrome without other ocular pathology. We emphasize the importance of early recognition and therapy of this treatable cause of decreased vision in Crouzon's syndrome.
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PMID:Bilateral keratoconus in Crouzon's syndrome. 813 12

An asymmetrical head (plagiocephaly) may be due to premature closure of the sutures of the skull (craniosynostosis) or to prolonged pressure on one side of the head in the pre- peri- or postnatal period. The latter deformity may be part of the squint baby syndrome. The diagnosis is based on a careful history and physical examination. X-rays of the skull and/or the cervical vertebral column are seldom necessary to confirm the diagnosis. Physiotherapy in an early stage, directed toward plagiocephaly and associated disorders, results in a complete disappearance of symptoms in a high percentage of cases.
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PMID:[Main points and concerns in plagiocephaly]. 849 99

Frontal plagiocephaly can be caused by two mechanisms: craniosynostosis and external deformational pressure. Synostotic plagiocephaly is known to be associated with vertical strabismus and contralateral head tilt. Thirteen patients with deformational frontal plagiocephaly were examined to evaluate head position, ocular motility, and alignment. Nine of the patients (70%) were found to have ipsilateral torticollis, but only one patient had strabismus and this was a horizontal deviation not obviously associated with head position. The clinical features of synostotic and deformational plagiocephaly are discussed to distinguish the two conditions, which have a different treatment and outcome.
J Pediatr Ophthalmol Strabismus
PMID:Ocular manifestations of deformational frontal plagiocephaly. 850 24

Eyelid retraction in an adult occurs usually secondary to Graves' ophthalmopathy, but in children the diagnosis is often obscure. To our knowledge, there are no reports reviewing the relative frequency of the various etiologies of eyelid retraction in children. We reviewed the records of our Pediatric Service from 1976 to 1991 and identified 16 children with eyelid retraction. The eyelid retractions were unilateral in 11 cases and bilateral in five cases, and were the result of five different identifiable causes. Unilateral eyelid retraction was associated with congenital aberrant innervation of the third nerve (3), levator fibrosis (2), hemangioma (1), hyperthyroidism (1), craniosynostosis (1) and Down syndrome (1). Bilateral eyelid retraction was associated with either hyperthyroidism (2) or bilateral optic nerve anomalies with vertical nystagmus (2). Seven of our 11 patients with unilateral retraction had an identifiable etiology, and the remaining four patients had incomplete evaluations. Imaging studies were diagnostic in four of nine patients so studied. Based on our findings, we recommend thyroid studies in all patients with eyelid retraction without aberrant innervation, and neuroimaging if thyroid function is normal.
J Pediatr Ophthalmol Strabismus
PMID:Etiology of eyelid retraction in children: a retrospective study. 850 25


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