5 documents found, page 1 of 1
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis
Albano,Lilian Maria José; Sakae,Paula Priscila Ohara; Mataloun,Marta Maria Galli Bozzo; Leone,Clea Rodrigues; Bertola,Débora R.; Kim,Chong AeSchinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the importance of congeni...
Hematological findings in Noonan syndrome
Bertola,Débora R.; Carneiro,Jorge David A.; D'Amico,Élbio Antônio; Kim,Chong A.; Albano,Lilian Maria José; Sugayama,Sofia M.M.; Gonzalez,Claudette H.OBJECTIVE: Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. The purpose of this study was to determine the frequency of hemostatic abnormalities in a group of Noonan syndrome patients. METHOD: We studied 30 patients with clinical diagnosis of Noonan syndrome regarding their hemostatic status consisting of bleeding time, prothrombin ti...
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis ...
Albano,Lilian Maria José; Nishioka,Silvana Angelina Dório; Moysés,Regina Lucia; Wagenführ,Jaqueline; Bertola,Débora; Sugayama,Sofia Mizuho MiuraOBJECTIVE - Cardiac evaluation (clinical, electrocardiographic and echocardiographic) of 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia (FA) related to the frequency and the size of GAA repeats (unstable expansion of trinucleotide repeats that results in the disease). METHODS - Clinical and cardiac study including electrocardiogram and echocardiogram of all patients and molecular analysis ...
Cardiac findings in 31 patients with Noonan's syndrome
Bertola,Débora Romeo; Chong,Ae Kim; Sugayama,Sofia M. M.; Albano,Lilian Maria José; Wagenführ,Jaqueline; Moysés,Regina Lúcia; Gonzalez,Claudette HajajOBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and echodopplercardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myoc...
Noonan syndrome: a clinical and genetic study of 31 patients
Bertola,Débora Romeo; Sugayama,Sofia M. M.; Albano,Lilian Maria José; Chong,Ae Kim; Gonzalez,Claudette HajajNoonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed nec...