Congenital craniofacial anomalies of ophthalmic importance

Fries, Peter D.; Katowitz, James A.

doi:10.1016/0039-6257(90)90067-6

Cited by 97 publications

(39 citation statements)

References 101 publications

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“…8 In our study, 34 patients had Crouzon's syndrome. Crouzon's syndrome 8,6,9 is characterised by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. All patients in our study who were diagnosed to have Crouzon's syndrome had ocular involvement.…”

Section: Resultsmentioning

confidence: 99%

Ocular Manifestation in Patients With Craniofacial Anomalies - A Hospital Based Study

M¹,

Shetty²,

Pai³

2016

jemds

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BACKGROUND Ocular manifestations in Children with Craniofacial Anomalies are an important but easily overlooked part as the patient and his family tends to be more focused on the more visible cosmetic disfigurement. The disfigurement while may be corrected in the hands of a competent surgeon at a later date, more lasting harm may be done to the patient's well-being if simple correctable refractive or other ocular conditions are left too late. This study was done to detect ocular involvement in patients with craniofacial anomalies and also to emphasise importance of routine ophthalmic examination in these patients. MATERIALS AND METHODSThis was a cross-sectional observational type of study. Study duration was dated from dated from November 2012 to October 2014. All patients who presented to the Department of Ophthalmology of Justice KS Hegde Medical College Hospital, Mangalore with craniofacial anomalies were included in this study. All patients with CFA were included in the study irrespective of age of presentation, gender or history of previous corrective surgery. The patients were evaluated at the time of presenting to the Department of Ophthalmology of Justice KS Hegde Medical College, Mangalore. Duration of this study was dated from November 2012 to October 2014. RESULTSOut of the 151 patients screened, 47.68 % (n=72) of the patients had one or the other forms of ocular anomalies. Patients with craniosynostosis had 100% ocular involvement (n=39). In patients with clefting syndrome, 29.46% of the patients had ocular involvement (n=33). Refractive error was most common ocular anomaly detected in our study. 49.01% of the patients in our study had refractive error out of which 22.51% of the patients were hypermetropes. CONCLUSIONFindings in our study suggest that there are numerous ocular associations in patients with craniofacial anomalies. A routine ophthalmic evaluation would help in early diagnosis of these ocular conditions and early management which would greatly benefit the patient.

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Section: Resultsmentioning

confidence: 99%

Ocular Manifestation in Patients With Craniofacial Anomalies - A Hospital Based Study

M¹,

Shetty²,

Pai³

2016

jemds

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“…Because these basic steps of cranial development occur during the first 8 weeks of gestation, it explains why embryogenic causes of major craniofacial malformations happen within this period. Fries and Katowitz (1990) consider that ''most of the congenital craniofacial deformities appear to represent a cessation of development of specific structures at a certain point of time. (.…”

Section: Discussionmentioning

confidence: 99%

“…We recently demonstrated new anatomical findings of the levator palpebrae superioris muscle in human fetuses (Plock et al, 2005). Anomalies of the extraocular muscles in patients with craniofacial malformations, like Crouzon, Apert, Pfeiffer, or Goldenhar-Gorlin syndromes, are only rarely reported and contain small numbers of patients for each malformation syndrome (Weinstock and Hardesty, 1965;Aleksic et al, 1976;Cuttone et al, 1979;Diamond et al, 1980;Nelson et al, 1981;Mansour et al, 1985;Carruthers, 1988;Pollard, 1988;Fries and Katowitz, 1990;Greenberg and Pollard, 1998;Coats and Ou, 2001). Diamond et al (1980) found that orbital muscles were affected in 42% of their Crouzon patients.…”

Section: Introductionmentioning

confidence: 93%

“…Strabismus is a common complication in these patients, often without obvious cause, and dysfunction or abnormal insertion of oblique or rectus muscles are more frequent (Diamond and Whitaker, 1984;Greenberg and Pollard, 1998;Coats and Ou, 2001). A higher rate of malformed extraocular muscles is assumed to be present in these patients, especially in association with malformation of the bony orbit (Cuttone et al, 1979;Diamond et al, 1980;Pollard, 1988;Fries and Katowitz, 1990;von Lüding-hausen et al, 1999). No reports exist in the current literature regarding ophthalmic embryologic findings in these syndromes, and hence few clues are available concerning their development and occurrence.…”

Section: Introductionmentioning

confidence: 97%

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Extraocular eye muscles in human fetuses with craniofacial malformations: Anatomical findings and clinical relevance

2006

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Anomalies of the extraocular muscles have been suspected to be present frequently in patients with craniofacial malformations. We studied the extraocular musculature in the orbits of 15 anencephalic human fetuses between the 5th and 10th months after gestation, and in one fetus with an occipital meningocele and a large defect of the left cranial base. The findings were compared to those in nine normal age-matched fetuses. All malformed fetuses exhibited special features of the levator palpebrae superioris muscle, either its absence, an anomaly of the muscle belly, or an anomalous insertion. In addition, deficient or aberrant muscle bellies of the oblique and rectus muscles were found. In anencephaly, the frontal bone is condensed, forming narrowed orbital cavities with hypotelorism. Frequent disturbance of extraocular muscle development in fetuses with craniofacial malformations is implicated. The presented specimens are examples of extreme variants of cranial and craniofacial malformation syndromes. Thus, similar findings of extraocular muscles might also be regularly found in clinically relevant craniofacial malformations. This would force new considerations about diagnostic and therapeutic approaches to patients with craniofacial malformations.

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“…Ectopic pupil probably is the result of coloboma of the iris. Uveal colobomas, as seen in this child, are very rare in Treacher Collins syndrome [Geeraets, 1976;Roy, 1985;Fries and Katowitz, 1990;Diamond et a]., 19901.…”

Section: Clinical Reportmentioning

confidence: 95%

Treacher Collins syndrome: Phenotypic variability in a family including an infant with arhinia and uveal colobomas

et al. 1996

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We report extreme expression of Treacher Collins syndrome in an infant with arhinia, anotia, absent zygomatic bones, hypoplastic mandibular rami, and bilateral coloboma of iris, choroid plexus, and optic nerves. The Treacher Collins phenotype was mildly expressed in the mother and moderately in the sister. The father had no signs and was not ruled out as the father by DNA fingerprinting, thus making homozygosity by descent in the severely affected son very unlikely. © 1995 Wiley‐Liss, Inc.

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Congenital craniofacial anomalies of ophthalmic importance

Cited by 97 publications

References 101 publications

Ocular Manifestation in Patients With Craniofacial Anomalies - A Hospital Based Study

Ocular Manifestation in Patients With Craniofacial Anomalies - A Hospital Based Study

Extraocular eye muscles in human fetuses with craniofacial malformations: Anatomical findings and clinical relevance

Treacher Collins syndrome: Phenotypic variability in a family including an infant with arhinia and uveal colobomas

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