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

The dermal collagen fibrils and the fibrils of the extraocular muscles and the conjunctivas of both eyes of a child afflicted with Ehlers-Danlos syndrome (EDS) were studied ultrastructurally. The results were evaluated statistically. Biopsy material was used in all instances. The collagen fibrils from all involved tissues showed a high percentage of size variation. Abnormalities of shape were noted. In the reticular dermis, 48% of fibrils were of normal diameter, 23% were enlarged, and 29% were thinner than normal. In the extraocular muscles, 77% were of normal size, 14.5% were larger, and 8.5% were smaller. In the conjunctivas, 73% of fibrils were normal-sized, 22% were enlarged, and 5% were of small diameter. No small-sized fibrils were encountered in control extraocular muscles.
J Pediatr Ophthalmol Strabismus
PMID:Collagen fibril abnormalities in the extraocular muscles in Ehlers-Danlos syndrome. 335 29

Ehlers-Danlos syndrome is one of many inherited abnormalities of connective tissue, specifically collagen. A 16-year-old caucasian female with Type VI Ehlers-Danlos syndrome had five unusual corneal findings, four of which have not been reported in association with Ehlers-Danlos syndrome: micro-cornea (previously reported), cornea plana, keratoconus posticus, stromal haze at the level of Bowman's layer and a peripheral ring opacity suggestive of anterior embryotoxon. Type VI Ehlers-Danlos syndrome is associated with deficient activity of lysyl hydroxylase which ultimately is responsible for cross-linking collagen chains, the source of its tensile strength. Genetic regulation of procollagen formation is believed to be mediated by mRNA. Aggregation and maturation in the extracellular matrix is probably influenced and mediated by its evolving biochemical environment, particularly by complex carbohydrate moieties. An understanding of collagen maturation, and the pathophysiologic and biophysical consequences of abnormalities at this level of biochemical organization, permits more specific understanding of ocular dysmorphology and collagen diseases.
J Pediatr Ophthalmol Strabismus
PMID:Collagen maturation defects in Ehlers-Danlos keratopathy. 358 56

Two unrelated girls, aged 11 and 14 years, with clinical manifestations of Ehlers-Danlos syndrome (EDS) type VIB, characteristic facies, skeletal abnormalities, and other features are described. They had Marfanoid habitus with pectus excavatum; fragile, hyperextensible, and readily bruisable skin with widened, atrophic scars; recurrent hematomas; generalized joint laxity; hypotonia; scoliosis; and mild delay of gross motor development. Lysyl hydroxylase deficiency was ruled out in Patient 1. Parental consanguinity was present in Patient 2. They both had, in early childhood, down-slanting palpebral fissures, drooping lower eyelids, short nose, small mouth, and long philtrum. Facial features that persisted included thick eyebrows, hypertelorism, strabismus, blue sclerae, low-set, and slanted ears, hypoplastic columella, high-arched palate, and thin upper lip. They had tubular stenosis of the phalanges, metacarpals, and metatarsals; decreased physiological curvatures of the spinal column with tall vertebrae; and joint contractures including talipes equinovarus and progressive talipes valgus. Their hearing of high-pitched sounds was impaired. They had constipation and recurrent cystitis with an enlarged bladder. In view of these findings, we propose that these two girls represent a clinically recognizable subgroup of EDS type VIB.
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PMID:Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. 1615 41

We previously described two unrelated patients showing characteristic facial and skeletal features, overlapping with the kyphoscoliosis type Ehlers-Danlos syndrome (EDS) but without lysyl hydroxylase deficiency [Kosho et al. (2005) Am J Med Genet Part A 138A:282-287]. After observations of them over time and encounter with four additional unrelated patients, we have concluded that they represent a new clinically recognizable type of EDS with distinct craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. The patients exhibited strikingly similar features according to their age: craniofacial, large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin vermilion of the upper lip, small mouth, and micro-retrognathia in infancy; slender and asymmetric face with protruding jaw from adolescence; skeletal, congenital contractures of fingers, wrists, and hips, and talipes equinovarus with anomalous insertions of flexor muscles; progressive joint laxity with recurrent dislocations; slender and/or cylindrical fingers and progressive talipes valgus and cavum or planus, with diaphyseal narrowing of phalanges, metacarpals, and metatarsals; pectus deformities; scoliosis or kyphoscoliosis with decreased physiological curvatures of thoracic spines and tall vertebrae; cutaneous, progressive hyperextensibility, bruisability, and fragility with atrophic scars; fine palmar creases in childhood to acrogeria-like prominent wrinkles in adulthood, recurrent subcutaneous infections with fistula formation; cardiovascular, cardiac valve abnormalities, recurrent large subcutaneous hematomas from childhood; gastrointestinal, constipation, diverticula perforation; respiratory, (hemo)pneumothorax; and ophthalmological, strabismus, glaucoma, refractive errors.
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PMID:A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 2050 5