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Samia Ali Temtamy

Samia Ali Temtamy, Egyptian geneticist (Damanhour, Beheira 02 December 1935 –


Described Temtamy syndrome

With M. Abdel Salam, E.H.A. Aboul-Ezz, H.A. Hussein, S.M. Helmy & B.A. Shalash. New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia. Clin. Dysmorph. 5:231-40, 1996

Described Temtamy preaxial brachydactyly

With N.A. Meguid, S.I. Ismail & M.I. Ramzy. A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies. Clin. Dysmorph. 7:249-55, 1998

Described Proteus syndrome

With J.G. Rogers. Macrodactyly, hemihypertrophy and connective tissue nevi. Report of a new syndrome and review of the literature. J. Pediatrics 89(6):924-7, 1976

Other syndromes

With N. Akizu, V. Cantagrel, M.S. Zaki, L. Al Gazali et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genet. 47(5):528-34, 2015

With A.M. Ashour & M. El-Darouti. A probable new syndrome of lipoid proteinosis, congenital cataract and characteristic facies. Egypt J. Med. Hum. Genet. 4:27-34, 2003

With A.H.H. Sinbawy. Cataract, hypertrichosis, hirsuitism and mental retardation (CAHMA): a new autosomal  recessive syndrome. Am. J. Med. Genet. 41(4):432-3, 1991

With J. Abdel-Hamid, F. Hussein, N. Abdel-Salam, N.A. Meguid, E.H.A. Aboul-Ezz & M.E. Zaki (abstract): “Megalocornea mental retardation syndrome (MMR): Delineation of a new entity (MMR-2).” Amer. J. Hum. Genet. Suppl., 49: 125 (Oct. 1991). Proc. 8th International Cong.  Hum. Genet. Washington D.C., USA.

With J.D. Miller, L.S. Levin & J.B. Dorst. Skeletal dysplasia with soft tissue tumors and ocular, dental and digital anomalies. A new syndrome. New Chromosomal and Malformation Syndromes. Birth Defects Orig. Art. Ser. 334 (1975)

With J.P. Dorst. Polydactyly of triphalangeal thumbs with upper limb and pectoral dysplasia. New Chromosomal and Malformation Syndromes. Birth Defect Orig. Art. Ser. Vol. XI: 340, (1975), Abs.

With M.R. El-Meligy, N. Osman, S. Adb el Meguid & S. Salem. A new bone dysplasia with autosomal recessive inheritance. Medical Genetics Today. Birth Defects Orig. Art. Ser. 10(10):165, 1974