Nadia Sakati

Nadia Awni Sakati

Nadia Awni Sakati (1938 – ) Syrian-Saudi pediatrician.

Nadia Awni Sakati نادية عوني سقطي is a prominent Syrian-Saudi pediatrician who has contributed to many discoveries and advances in the field of medical genetics. Her discoveries and research in genetic disorders resulted in the books she co-authored with Dr. William Nyhan, “Genetic and Malformation Syndrome in Clinical Medicine, 1976” and “Diagnostic Recognition of Genetic Disease, 1987”.

Established one of the first genetics departments in Saudi Arabia; and worked on chorionic villus sampling and carrier detection. Eponymously affiliated with 3 rare genetic syndromes: Sakati-Nyhan-Tisdale syndrome (1971); Woodhouse–Sakati syndrome (1983); and Sanjad-Sakati syndrome (1991)


Biography
  • Born 23 May 1938 in  in Damascus, Syria
  • 1965 – MD, Damascus University
  • 1966 – Pediatric resident at the American University of Beirut, and the Jackson Memorial Hospital in Miami, Florida
  • 1969 – Fellow in Genetics and Metabolism at the University of California
  • 1978 – Paediatrician and consultant for the genetics research center at King Faisal Specialist Hospital and Research Centre (KFSHRC) in Riyadh
  • 1987-1989 Chairman of Pediatrics, KFSHRC
  • 1993 – Saudi Nationality bestowed by King Fahed bin Abdulaziz
  • 1989-1995 Director of Genetics/Endocrinology and Metabolic Disease Fellowship Program, KFSHRC
  • 1995-2001 Head of Medical Genetics Section, KFSHRC
  • 2001 – Distinguished Senior Consultant, KFSHRC
  • 2018 – Special Distinction award

Medical Eponyms
Sakati-Nyhan-Tisdale syndrome (1971)

Disorder presenting with severe acrocephaly and distinctive leg defects (hypoplastic tibia, bowed femora, coxa valga), brachydactyly, duplication of the first toe, preaxial polydactyly, and congenital heart disease. Sakati long with American pediatricians William Leo Nyhan, and William K. Tisdale, both described the malformation syndrome in a single 8 year old male in 1971. Rare condition, usually sporadic. [Acrocephalopolysyndactyly Type III; Sakati-Nyhan syndrome; OMIM 101120]


Woodhouse–Sakati syndrome (1983)

Woodhouse and Sakati (1983) reported a total of 7 Saudi Arabian individuals from 2 consanguineous families with a combination of hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness. Caused by homozygous mutation in the C2ORF37 gene (DCAF17; 612515) on chromosome 2q31. [OMIM 241080]


Sanjad-Sakati syndrome (1991)

Sanjad and Sakati (1998, 1991) reported congenital hypoparathyroidism and seizures in association with growth and mental retardation in children of consanguineous parents in the Middle East. [Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS); OMIM 241410]


Major Publications


References

Biography

Eponyms


eponymictionary CTA

eponym

the person behind the name

Emergency Physician (FACEM). Advanced emergency ultrasound fellow at the Sonocave, Perth, Western Australia

Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM with a passion for rugby; medical history; medical education; and informatics. Asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | vocortex |

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