Atypical serum cholinesterase in a family with congenital distichiasis.

Shammas, Hanna F.; Tabbara, K F; Kaloustian, Vazken M. Der

doi:10.1136/jmg.13.6.514

Cited by 8 publications

(1 citation statement)

References 10 publications

(3 reference statements)

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“…Thus, it is difficult to determine when the congenital nature of the condition was appreciated first. According to Cornaz [1852], the first congenital case may have been reported by Ferrin in 1740; however, the familial nature of the condition was not recognized until 1894 [Nimier and Despagnet, 18941. Our review of the literature identified only 133 familial cases in 34 families, and 50 isolated cases [Cornaz, 1852;Schweigger, 1878;Nimier and Despagnet, 1894;Ischreyt, 1898;Koller, 1899;Pokrovski, 1914;DeRosa, 1927;Drouin, 1939;Braley, 1955;Fox, 1962;Falls and Kertesz, 1964;Deutsch, 1969;Robinow et al, 1970;Hoover and Kelly, 1971;Mustonen, 1972;Shammas et al, 1976;Jester, 1977;Holmes et al, 1978;Mendoza, 1978;Friday and Hiles, 19781. Many of the latter probably represent fresh mutations but some may have been unrecognized familial cases.…”

Section: Family Studiesmentioning

confidence: 99%

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies

et al. 1985

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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.

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Section: Family Studiesmentioning

confidence: 99%

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies

et al. 1985

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Genetic diseases in Lebanon

et al. 1980

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Lebanon has a high incidence of common and rare genetic diseases, due probably to the mosaic different ethnic origins and the high rate of consanguineous marriages in certain communities. Two major investigations, exploring the genetic structure of the Lebanese population, indicated the population to be caucasiods (though Oriental traits were found). These investigations involved studies of dermatoglyphics, and type and distribution of genetic markers and protein variants. Recorded genetic diseases, some characteristic of ethnic group or particular to a geographic region include familial paroxysmal polyserositis, familial hypercholesterolemia, hypothroidism, the Dyggve-Melchoir-Clausen syndrome, Sandhoff disease, and various genetic hematologic diseases. Genetic counseling and care to patients with genetic diseases is available in Beirut from the Faculty of Medicine at American University and St. Joseph University. Also, the Lebanese National Council for Scientific Research initiates and finances medical genetics programs.

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Genetics in Oculoplastics

Pao

Levin

2011

Smith and Nesi’s Ophthalmic Plastic and Reconstructive Surgery

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Atypical serum cholinesterase in a family with congenital distichiasis.

Cited by 8 publications

References 10 publications

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies

Genetic diseases in Lebanon

Genetics in Oculoplastics

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