Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper presents a brief review of the literature regarding congenital distichiasis. The literature is confusing regarding the term distichiasis. Distichiasis should be utilized to describe congenital partial or complete accessory rows of eyelashes which exit from the posterior lid margin behind the meibomian gland orifices. The term acquired trichiasis and congenital distichiasis are significantly different. This paper also describes a new method for microscopically dissecting and excising the follicles of distichiatic eyelashes. The technical details of the surgical procedure are described with appropriate illustrations. This procedure can also be utilized for removal of localized areas of acquired trichiasis. The advantage of this procedure over previously utilized procedures for congenital distichiasis is the lower incidence of recurrent distichiatic lashes, combined with complete preservation of normal eyelashes and essentially no risk of cicatricial entropion following this procedure.
J Pediatr Ophthalmol Strabismus
PMID:Excision of individual follicles for the management of congenital distichiasis and localized trichiasis. 355 49

A case of primary congenital upper eyelid entropion ( PCUEE ) is reviewed. The author proposes a congenital shortness of the levator muscle with anomalous insertion onto the tarsal plate as the etiology, and a new simplified surgical correction is described. The classification of PCUEE as a syndrome with multiple congenital anomalies is supported, and the need for a complete systemic evaluation is stressed. Congenital primary upper eyelid entropion is an exceedingly rare condition. In 1969, Hiles and Wilder reviewed the 13 known cases in the ophthalmic literature, and presented a new case. They suggested the possibility that congenital upper eyelid entropion was part of a syndrome involving multiple systemic anomalies. Surgical correction of the ectropion is usually necessitated by corneal erosion secondary to trichiasis, and a multifarious assortment of surgical procedures has been described. The following is a case report of primary congenital upper eyelid entropion which corroborates the categorization as a syndrome, suggests a pathophysiologic abnormality of the eyelid as the etiology, and describes a new, simplified technique of surgical repair.
J Pediatr Ophthalmol Strabismus
PMID:Congenital primary upper eyelid entropion. 672 57

Two brothers with very similar phenotypes involving trichiasis (misdirected lashes), entropion with corneal abrasions, strabismus, progressive thinning of the scalp hair, sensorineural hearing impairment, mild learning difficulties, and inguinal hernias are described. They have similar, distinctive facial features with deep-set eyes, a high nasal bridge and a short philtrum. Both brothers are carriers of a maternally inherited apparently balanced translocation of chromosomes 11 and 18: 46,XY, t(11;18)(p13;q21)mat. However, this is thought to be coincidental, since their younger brother also carries this translocation and is phenotypically normal. Although they have many features that are found in the ectodermal dysplasia syndromes, their combination of features is distinct and has to our knowledge not been previously reported.
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PMID:Two brothers with trichiasis, entropion and corneal scarring, sensorineural hearing loss, progressive thinning of scalp hair, mild learning difficulties and distinct facial features. A new syndrome? 1505 21

Osteoma cutis describes bone formation in skin and is well documented in the medical literature, but veterinary reports are few. We report a single case of a juvenile samoyed that was referred for assessment of a superior eyelid anomaly. Exploratory surgery and histopathology revealed the presence of mature, lamellar bone within the superior eyelid. The histologic appearance was consistent with primary osteoma cutis. The presence of the ossification within the deep dermis of the eyelid was associated with an abnormal conformation causing trichiasis, keratitis and dorsal strabismus. Identification of the osseous lesion during surgery and its removal was curative with no recurrence of disease during the 32 month follow-up period.
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PMID:Primary isolated osteoma cutis causing eyelid deformation and strabismus in a dog. 2639 78