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At least 829 records · Page 46Linked to original sources
PubMed1993

Intraocular cilia. Report of six cases of 6 weeks' to 32 years' duration.

In this study, we describe the clinicopathologic features seen in six cases of intraocular cilia and review the features of previously reported cases. Ultrastructural studies of the cilia showed partial loss of the cuticle layer, diffuse accumulation of small electron-dense granules in cuticle and cortical cells, and loss of continuous cell membranes of the cortex. The cilia were almost completely intact in most of our cases. Intraocular cilia can be tolerated for long periods.

Adolescent↗
PubMed1995

Cilia incarnata.

Explore the source record for details and available documents.

Adult↗
PubMed1978

Distichiasis complicating allergic rhinoconjunctivitis.

Three patients had four lid distichiasis and signs and symptoms of allergic rhinoconjunctivitis. The findings consisted of ocular irritation with tearing, photophobia, periodic lid swelling, rhinorrhea, and boggy nasal mucosa. Treatment of the allergic rhinoconjunctivitis was unsuccessful until the distichiasis was relieved. Exacerbations of signs and symptoms recurred when lashes regrew. A neural reflex relationship exists to explain most of the symptom complex resulting from ocular irritation. In the evaluation of patients with rhinoconjunctivitis, trichiasis should be looked for, especially if there is noticeable photophobia present.

Child↗
PubMed1996

Family with autosomal dominant hidrotic ectodermal dysplasia: a previously unrecognised syndrome?

We describe a three-generation family with an autosomal dominant hidrotic ectodermal dysplasia consisting mainly of tricho- and onychodysplasia. One of the patients had supraventricular tachycardia, another had palpitations, and two others had sinus brachycardia. We consider that the clinical manifestations in this family differ significantly from those of the Clouston syndrome (their previous diagnosis) and places them in Group A, subgroup 1-3 (tricho-onychic) of the ectodermal dysplasia classification proposed by Freire-Maia and Pinheiro [1988, "Ectodermal Dysplasias"].

Adolescent↗
PubMed1996

Distichiasis-lymphedema syndrome: tetralogy of Fallot, chylothorax, and neonatal death.

We describe a newborn female with a severe presentation of distichiasis-lymphedema syndrome (McKusick 15340). She was initially evaluated because of a phenotype suggestive of Ullrich-Turner or Noonan syndrome (low posterior hairline, cupped ears, severe pterygium colli, heart murmur, and pectus excavatum). Distichiasis was noted at age 6 weeks. Subsequent to surgery for tetralogy of Fallot, patent ductus arteriosus, and branch pulmonic stenosis, she developed persistent chylothorax and sepsis. She died at 3 months. Family history indicated segregation of distichiasis-lymphedema syndrome. She was the sixth member in her family to have this disorder and was the most severely affected.

Abnormalities, Multiple↗
PubMed1985

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies.

We report on a previously apparently unreported syndrome of distichiasis with congenital heart defects and with mixed peripheral vascular anomalies in a mother and her four children. The mother had a ventricular septal defect; both daughters had surgery for patent ductus arteriosus. Sinus bradycardia alone (elder son), with stress induced asystole (younger son), and with wandering atrial pacemaker (both daughters) are documented electrocardiographically. Three of the five have edema, two have visible varicosities, three have symptoms consistent with chronic venous disease of the legs, and the older daughter has complaints consistent with arterial disease in the legs. Doppler flow studies demonstrated post-phlebitic syndrome in all but the younger daughter, and vasospastic disease in the mother, older daughter, and second son.

Adolescent↗
PubMed1995

Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate.

We report on several individuals with bilateral cleft lip and palate, lagophthalmia, megaloblepharon, distichiasis, and ectropion of the lower eyelids, representing in total a distinct craniofacial syndrome. Eight cases (3 from 1 family) in ages ranging from 1-45 years were identified over a 7-year period in the Cleft Palate and Craniofacial Clinic at our center. All cases (3 male, 5 female) presented with bilateral cleft lip and palate and lagophthalmia. Birth weight, growth, and development were normal in all cases, except for one who probably has familial small stature. Five of the 8 cases have distichiasis, and 5 have ectropion in varying degrees; dental findings consisted of hypodontia in 5 and delayed dentition in 1 patient. Hypoplastic nails and clinodactyly were confined to 3 members of 1 family. Clinical evidence in these cases and a review of the literature regarding distichiasis and lagophthalmia, either alone or in combination with ectropion, suggest that this craniofacial syndrome is most likely an autosomal-dominant trait. The 5 non-familial cases probably represent new mutations.

Abnormalities, Multiple↗
PubMed2002

Prenatal diagnosis of Milroy's primary congenital lymphedema.

Milroy's primary congenital lymphedema (PCL) (hereditary lymphedema type I, Milroy disease) is present at birth, and mostly affects the dorsal aspects of feet. It is mostly a life-long condition but does not affect longevity. Complications are rare except for chronic discomfort and warmness of affected areas. PCL is an autosomal dominant disease with incomplete penetrance due to a mutation in the gene locus encoding for VEGFR3 with resultant dysgenesis of microlymphatic vessels. We report on two fetuses where ultrasonographic examination at 15 weeks of gestation showed significant edema of the dorsal aspects of both feet with no evidence of other major malformations. Whereas in one fetus the edema resolved completely, it persisted in the second fetus and proved after birth to be of lymphedematous nature. To the best of our knowledge, this is the first report of early prenatal diagnosis of primary congenital lymphedema via fetal ultrasonographic examination and of spontaneous resolution of lymphedema during fetal life.

Adult↗
PubMed1994

Predicting surgical compliance in a cohort of women with trichiasis.

Trichiasis/Entropion are the severe consequences of chronic trachoma during early life. Blindness and vision loss is preventable with timely lid surgery to correct trichiasis. In a trachoma hyperendemic region of Central Tanzania, a two year follow-up survey was conducted among 205 women with trichiasis to determine the proportion who had had surgery and the barriers to having surgery. Only 18% of the women had undergone surgery by the 2 year follow-up. Those who had surgery tended to report more eye problems at baseline and have more corneal opacities at baseline. Barriers preventing women from going to surgery were costs, problem of children left at home alone, and difficulties in identifying someone to accompany them to the health center. Over 2/3 of those who had surgery reported a significant decrease in pain, improvement of vision, and improved ability to carry out activities of daily life. Ways to improve compliance with recommendations for trichiasis surgery need to be developed.

Adolescent↗