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Browsing SOM - Scholarly Publications by Author "Der Kaloustian, Vazken M."

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Browsing SOM - Scholarly Publications by Author "Der Kaloustian, Vazken M."

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  • Brief clinical report and review 
    Deeb, Mary E.; Jaatoul, Nadia Y.; Haddad, Nadra E.; Khoury, Leila A.; Afifi, Adel K.; Bahuth, Nadia B.; Mikati, Mohammad A.; Der Kaloustian, Vazken M. (2016-11-23)
    We have studied a sibship with one confirmed and three probable cases of the Marden-Walker syndrome (MWS). Our patient had the major manifestations of blepharophimosis and squint; narrowly arched palate with micrognathia; ...
  • Clinical and biochemical characteristics of prolidase deficiency in siblings 
    Deeb, Mary; Freij, Bishara J.; Levy, Harvey L.; Dudin, Gertrud; Mutasim, Diya'; Der Kaloustian, Vazken M. (2016-11-18)
    Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline ...
  • Familial spinocerebellar degeneration with corneal dystrophy 
    Deeb, Mary E.; Der Kaloustian, Vazken M.; Jarudi, Nabil I.; Khoury, Muin J.; Afifi, Adel K.; Bahuth, Nadia B.; Shammas, John; Mikati, Mohamad A.; Opitz, John M.; Reynolds, James F. (2016-11-23)
    We report on two sisters born to normal but consanguineous parents, with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Their manifestations include mental subnormality, bilateral corneal ...
  • Interstitial deletion of band q12 of chromosome 5 
    Deeb, Mary; Dudin, Gertrud; Alexander, Denis; Talj, Fayrouz; Musallam, Salim; Der Kaloustian, Vazken M. (2016-11-23)
    A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents ...
  • Odontoonychodermal dysplasia 
    Deeb, Mary; Fadhil, Mahmoud; Ghabra, Tarek A.; Der Kaloustian, Vazken M.; Opitz, John M. (2016-11-18)
    Seven affected individuals in a total of 24 belonging to three inbred Lebanese sibships are presented as having a previously apparently undescribed pure ectodermal dysplasia. For this condition, probably owing to the ...
  • Sandhoff Disease 
    Deeb, Mary E.; Der Kaloustian, Vazken M.; Khoury, Muin J.; Hallal, Ruwayda; Idriss, Ziad H.; Wakid, Nabil W.; Haddad, Fuad S. (2016-11-18)
    All cases clinically diagnosed as Tay-Sachs disease at the American University Hospital, Beirut, during a period of 22 years (1957--1979) were reviewed. Of a total of 15 cases, seven had serum hexosaminidase tested and ...

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