Two different Temtamy syndromes

Temtamy, Samia

doi:10.1097/mcd.0b013e32835ca069

Cited by 2 publications

(1 citation statement)

References 5 publications

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“…Congenital anomalies Walia et al (1971) [13] Congenital heart disease Paré and Elhilali (1972) [14] Hydrometrocolpos and polydactyly Eisenberg and Pfister (1972) [15] Indridason ; Thomas ;and Berkoben (1996) [25] Kusz et al (2019) [29] Medullary sponge kidney Henry et al (1973) [16] Abnormalities of the aortic arch; and of the skeletal; cutaneous and ocular systems. Temtamy and Rogers (1976) [17] Macrodactyly; and connective tissue nevi Fischer ;Strand ;and Shapiro (1984) [18] Abnormalities of the cerebral vasculature : giant aneurysm; capillary hemangioma; and arteriovenous malformation Hidano and Arai (1987) [19] Syndactyly ; scoliosis; short forth metacarpus; hypoplastic mandible; peroneal exostosis ;multiple faint nevi flammei ; telangiectasis; nevus anemicus ; fibromatous tumors of the tip of the tongue; mitral prolapse; and vascular; cerebral; abnormalities Agarwal et al (1988) [20] Giani ;Lapi ;Pezzati (1991) [21] Benign nephromegaly and duplex ureter Dawn et al (1995) [22] Nevus depigmentosus Sabry et al (1995) [23] Right upper limb triplication; polythelia; ; congenital hip dislocation; facial dysmorphism; congenital heart disease; and scoliosis Calzolari et al (1996) [24] Hemimegalencephaly Memon et al (2005) [26] Renal dysplasia and benign nephromegaly Akarsu et al (2005) [27] Congenital hemihypertrichosis White et al (2018) [28] Café au lait spots; left-sided cryptorchidism; and albinotic spots of the retinal pigment epithelium Mohanna and Sallam (2008) from Yemen reported a case presented with partial hemihypertrophy of the right leg and foot with polydactyly; a right sided abdomin...…”

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confidence: 99%

Congenital Partial Hemihypertrophy, Low Set Ears, Hypertelorism, and Epicanthi Folds: A Novel Syndromic Association

Al-Mosawi¹

2020

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Background: Congenital hemihypertrophy is a very rare condition that can be isolated or occurs in association with other congenital abnormalities and neoplasms, and well-recognized syndromes. Well-known syndromes that are associated with congenital hemihypertrophy include Klippel-Trenaunay-Weber syndrome, Beckwith Wiedemann syndrome, Goldenhar syndrome, Silver-Russell's syndrome. Partial hemihypertrophy affecting a limb is an extremely rare condition, and was probably first reported in 1949 by web, and very few cases have been reported in the literature. Patients and methods: Ten month old infant with partial hemihypertrophy, delayed development and facial dysmorphism who was observed at the pediatric neuropsychiatry clinic of Baghdad Medical City was studied. Results: The boy was hypotonic with developmental delay and has not been able sit yet. He had low set ears and facial dysmorphism consisting of hypertelorism and epicanthic folds. His right lower limb was obviously larger than the left. Parents were consanguineous, and family history was negative for similar condition. The rest of the examination was normal. Brain CT-scan, echocardiography, abdominal ultrasound, and chromosomal karyoype showed normal finding. Conclusion: Hemihypertrophy has not been reported in Iraq before. A novel syndromic association consisting of congenital partial hemihypertrophy, low set ears, hypertelorism, epicanthi folds, and developmental delay is reported in this paper.

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Section: Author (S)mentioning

confidence: 99%

Congenital Partial Hemihypertrophy, Low Set Ears, Hypertelorism, and Epicanthi Folds: A Novel Syndromic Association

Al-Mosawi¹

2020

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The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years

Temtamy¹

2019

Annu. Rev. Genom. Hum. Genet.

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This article describes my experiences over more than 50 years in initiating and maintaining research on human genetics and genomics at the National Research Centre in Cairo, Egypt, from its beginnings in a small unit of human genetics to the creation of the Center of Excellence for Human Genetics. This was also the subject of a lecture I gave at the 10th Conference of the African Society of Human Genetics, held in Cairo in November 2017, after which Professor Michèle Ramsay, president of the society, suggested that I write an autobiographical article for the Annual Review of Genomics and Human Genetics. I hope that I succeeded in the difficult assignment of summarizing the efforts of a researcher from a developing country to initiate and maintain the rapidly advancing science of human genetics and genomics in my own country and make contributions to the worldwide scientific community.

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Two different Temtamy syndromes

Cited by 2 publications

References 5 publications

Congenital Partial Hemihypertrophy, Low Set Ears, Hypertelorism, and Epicanthi Folds: A Novel Syndromic Association

Congenital Partial Hemihypertrophy, Low Set Ears, Hypertelorism, and Epicanthi Folds: A Novel Syndromic Association

The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years

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