Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Abd-Elkhalek HS"'
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
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
Autor:
Shawky, RM, Abd-Elkhalek, HS
Publikováno v:
Egyptian Journal of Medical Human Genetics; Vol 13, No 1 (2012); 115-118
We report a one year old male patient with slight upward slanting palpebral fissures, hypotelorism, bulbous nose, high arched narrow palate, low set ears, bilateral partial simian creases, short neck with loose skin over it, thick ridge over the meto
Autor:
Shawky, R, Abd-Elkhalek, HS
Publikováno v:
Egyptian Journal of Medical Human Genetics; Vol 11, No 1 (2010)
We report on a 1 5/12 years old male patient with clinical manifestations of Peters’-Plus syndrome. The patient had Peters’ anomaly (central adherent leucoma, bilateral congenital cataract), growth deficiency, disproportionate short stature, mild
Autor:
Magdy RM; Metabolic and Genetics Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt. Electronic address: rofidamohamed@med.sohag.edu.eg., Abd-Elkhalek HS; Medical Genetics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Bakheet MA; Pediatric Cardiology Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt., Mohamed MM; Pediatric Neurology Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2022 Jan; Vol. 29 (1), pp. 36-43. Date of Electronic Publication: 2021 Nov 27.