Results 141 to 150 of about 1,143,678 (194)
A rare encounter: Navigating airway challenges in Van den Ende-Gupta syndrome. [PDF]
Jha S, Ayub A, Ashwin M, Vignesh V.
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Delayed-Onset Type 1 Kounis Syndrome Caused Ventricular Fibrillation: A Case Report. [PDF]
Cui H, Li Y, Liu Y.
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Frontalis sling surgery - pediatric versus adult population: characteristics and outcomes. [PDF]
Arnon R +9 more
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Congenital Alacrima in a Patient with Blepharophimosis Syndrome
Ophthalmic Genetics, 2009To report a case of congenital alacrima in a patient with Blepharophimosis Syndrome (BPES).Case report of a 9-month-old female who presented with severe dry eyes. Further investigation revealed bilateral absence of lacrimal glands confirmed by CT.
Geetha K, Athappilly +1 more
exaly +3 more sources
Vertical transmission of the Ohdo blepharophimosis syndrome
American Journal of Medical Genetics, Part A, 1998Ohdo blepharophimosis syndrome (OBS) is a multiple congenital anomalies-mental retardation syndrome composed of blepharophimosis, ptosis, dental hypoplasia, partial deafness, and mental retardation. Previously reported cases of OBS have been sporadic except for the report by Ohdo et al. [1986, J Med Genet 23:242-244] that described two affected sisters
Albert E Chudley +2 more
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Two additional cases of the Ohdo blepharophimosis syndrome
American Journal of Medical Genetics, Part A, 1993AbstractTwo additional cases of the Ohdo blepharophimosis syndrome are described and compared to the 5 patients previously reported. Blepharophimosis, ptosis, dental hypoplasia, mental retardation, and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia. © 1993 Wiley‐Liss, Inc.
Anneke Maat-Kievit, H G Brunner
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