نتایج جستجو برای: fryns
تعداد نتایج: 99 فیلتر نتایج به سال:
Fryns syndrome is characterized by multiple congenital anomalies including congenital diaphragmatic hernia (CDH), and congenital heart disease (CHD).The prognosis of infant with Fryns syndrome and left sided CDH when associated with pulmonary hypoplasia is grave. We report a 2year old boy with Fryns syndrome who had right sided CDH, Tetralogy of Fallot, and other multiple congenital anomalies. ...
Fryns syndrome is an autosomal recessive hereditary disease, including abnormal facies, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, and diaphragmatic hernia with pulmonary hypoplasia. The aim of the present report is to increase awareness of Fryns syndrome and its association with rare abnormalities such as cecal duplication cyst, horseshoe kidney and b...
We report two fetuses with Fryns syndrome including the typical facial appearance and distal limb and lung hypoplasia, but no diaphragmatic hernias. The parents were consanguineous. Characteristic in both cases were the distal limb defects with brachytelephalangism and aplasia of the distal phalanges of the first toe. Since one of the two sibs had severe lung hypoplasia without macroscopic or m...
T Kleefstra, H G Yntema, A R Oudakker, M J G Banning, V M Kalscheuer, J Chelly, C Moraine, H-H Ropers, J-P Fryns, I M Janssen, E A Sistermans, W N Nillesen, L B A de Vries, B C J Hamel, H van Bokhoven . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید