Výsledky vyhledávání

CASE REPORT Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

Autor: Shawky, RM, Gamal, R, Mohammad, SA

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 16, No 3 (2015); 277-281

We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::4fdf92583fc8402c7fc06d9854e0e66f
https://www.ajol.info/index.php/ejhg/article/view/119490

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Case Report: Trichorhinophalangeal syndrome II, expanding the clinical spectrum

Autor: Shawky, RM, Elkhalek, HSA, Elghawaby, AES, Mohammad, SA, Seifeldin, NS

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 16, No 1 (2015); 89-94

We report a 4.5 year old Egyptian male child, fourth in the order of birth of healthy remote consanguineous parents. He has typical facial as well as skeletal features of Trichorhinophalangeal syndrome (TRPS) II. The facial features included bilatera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::f7d3b9fce3db67c2dc09886aa197e8b3
https://www.ajol.info/index.php/ejhg/article/view/112393

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Characterization of Staphylococcus aureus nasal colonization rates among healthcare workers, clinical students and community in the eastern region, Al-Ahsa, Saudi Arabia

Autor: El-Mahdy, TS, Shawky, RM

Publikováno v: New Egyptian Journal of Microbiology; Vol 39, No 1 (2014); 53-62

Carriers of Staphylococcus aureus have an important role in its dissemination. The colonization rates of S. aureus in anterior nose nares from 210 healthy volunteers (70 from the non-hospital adult personnel in the community, 68 from clinical student

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::81b90d3567a0a786edeeadd9b7cb2a2f
https://www.ajol.info/index.php/nejmi/article/view/109778

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Case Report: Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome

Autor: Shawky, RM, Amr, N, Salah, H, Gad, S

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 15, No 2 (2014); 199-202

Background: Miller syndrome is one of the acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs.Case report: A 26 month old male child, the product of healthy nonconsanguineous parents has many

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::5b1f1260eea967260fb7300a57988e10
https://www.ajol.info/index.php/ejhg/article/view/103068

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Case Report: Intrafamilial variability in Simpson–Golabi–Behmel syndrome with bilateral posterior ear lobule creases

Autor: Shawky, RM, Abd-Elkhalek, HS, Gad, S

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 15, No 1 (2014); 87-90

We report a family having two male sibs with Simpson–Golabi–Behmel syndrome (SGBS). Both have many typical features of the syndrome. These features included macrocephaly, macroglossia, post axial polydactyl of the left hand, bilateral low inserti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::5d980f05a647a3df1cdcfc11fde4c43b
https://www.ajol.info/index.php/ejhg/article/view/100851

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Case Report: Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an Egyptian patient with mild Baraitser–Winter syndrome

Autor: Shawky, RM, Elabd, HSAE, Gamal, R

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 15, No 1 (2014); 95-98

Background: Baraitser–Winter syndrome (BRWS) is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects.Case report: A 3.5 year old female child with BRWS has bilateral congenital ptosis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::1a8185b509dcfbf28334cbb25e28e572
https://www.ajol.info/index.php/ejhg/article/view/100854

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Alphafetoprotein in screening for congenital hypothyroidism

Autor: Shawky Rm, el-din Azzam Me, Abd el-Fattah S, Rafik Mm, Osman A

Publikováno v: Eastern Mediterranean Health Journal. 7:171-180

This study was conducted on 500 full-term neonates and 25 older patients with congenital hypothyroidism [CH], newly or previously diagnosed. Alphafetoprotein [AFP] was elevated in two neonates. In one, persistent elevation of AFP and thyroid stimulat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1d0295d7a30b800192935bdec14cb9c8
https://doi.org/10.26719/2001.7.1-2.171

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Case Report - Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome

Autor: Shawky, RM, Elsayed, NS, Seifeldin, NS

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 13, No 2 (2012); 233-237

Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5 months old with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::9c6608b8b5ab414386dcd9a746d6f47e
https://www.ajol.info/index.php/ejhg/article/view/77703

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Case Report - Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin patches

Autor: Shawky, RM, Abd-Elkhalek, HS, Gad, S, Seifeldin, NS

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 13, No 2 (2012); 227-231

A female, 26 months old with features supporting the diagnosis of neonatal progeroid syndrome was presented. She had prenatal and postnatal growth failure, generalized lipoatrophy except for fat pads in the suprabuttock areas, triangular face, pseudo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::802cc001917da6e6c1cf9e5c2bd15137
https://www.ajol.info/index.php/ejhg/article/view/77702

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Case Report: Multiple pterygium syndrome with marked pterygia of the fingers and MRI changes in the spine

Autor: Shawky, RM, Elsayed, S, Gaboon, N

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 13, No 1 (2012); 107-113

We report a two years old Egyptian girl, the first birth of consanguineous marriage with clinical findings consistent with the diagnosis of the autosomal recessive multiple pterygium syndrome (Escobar) (growth retardation, craniofacial dysmorphism, m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::bdd717de10ac703e790ce1e48e05feb4
https://www.ajol.info/index.php/ejhg/article/view/77398

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