Aamir Rasool

Publications (3) View all

• Article: Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome?

  S. Farah, M. A. Sabry, A. Khuraibet, S. Khaffagi, M. Rudwan, M. Hassan, N. Haseeb, S. Abulhassan, M. A. Abdel-Rasool, S. Elgamal, B. Qasrawi, W. Al-Busairi, T. I. Farag
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  ABSTRACT: Clinico-radiological assessment of three mentally retarded members of a large Bedouin kindred showed lissencephaly, spastic paraparesis, myoclonic epilepsy and cerebellar hypoplasia. It seems that the familial association of lissencephaly/myoclonic epilepsy/cerebellar hypoplasia represents a new entity.
  Clinical Genetics 06/2008; 51(5):326 - 330. · 3.13 Impact Factor
• Source

  Available from: Ghema Ramadan

  Article: Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

  M A Sabry, M Zaki, S J Abul Hassan, D G Ramadan, M A Abdel Rasool, S A al Awadi, Q al Saleh
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  ABSTRACT: We report four sibs with Kenny-Caffey syndrome in a consanguineous Bedouin family. The first two died in the neonatal period while the remaining affected brother and sister had all the characteristic clinical, biochemical, and radiological abnormalities of the syndrome. These included severe pre- and postnatal growth retardation, cortical thickening of the tubular bones with medullary stenosis, eye abnormalities, facial dysmorphism, hypocalcaemia, and low levels of parathyroid hormone. The children also showed intracranial calcification, impaired neutrophil phagocytosis, increased proportion of B lymphocytes, reduced CD4 and CD8 subpopulations of T lymphocytes, and inhibited transformation in response to Candida antigen. Fluorescence in situ hybridisation (FISH) was applied to blood lymphocyte metaphase spreads from these two Bedouin sibs and their parents using probe D22S75 (Oncor), specific for the DiGeorge critical region on chromosome 22q11.2. The presence of 22q11.2 haploinsufficiency was identified in the affected sibs, which was transmitted from the phenotypically normal mother. The present report widens the spectrum of CATCH 22 microdeletion to accommodate Kenny-Caffey syndrome.
  Journal of Medical Genetics 02/1998; 35(1):31-6. · 6.36 Impact Factor
• Article: Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome?

  S Farah, M A Sabry, A Khuraibet, S Khaffagi, M Rudwan, M Hassan, N Haseeb, S Abulhassan, M A Abdel-Rasool, S Elgamal, B Qasrawi, W Al-Busairi, T I Farag
  [show abstract] [hide abstract]
  ABSTRACT: Clinico-radiological assessment of three mentally retarded members of a large Bedouin kindred showed lissencephaly, spastic paraparesis, myoclonic epilepsy and cerebellar hypoplasia. It seems that the familial association of lissencephaly/myoclonic epilepsy/cerebellar hypoplasia represents a new entity.
  Clinical Genetics 06/1997; 51(5):326-30. · 3.13 Impact Factor