5 documents found, page 1 of 1
Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Aty...
Meira,Joanna Goes Castro; Sarno,Manoel Alfredo Curvelo; Faria,Ágatha Cristhina Oliveira; Yamamoto,Guilherme Lopes; Bertola,Débora RomeoAbstract Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mosaicism, can generate offspring with a much more severe phenotype of AOI. In the present report, we describe a female newborn with classic AOI leading to e...
Menkes disease: importance of diagnosis with molecular analysis in the neonatal...
Costa,Larissa Sampaio de Athayde; Pegler,Stephanie Pucci; Lellis,Rute Facchini; Krebs,Vera Lúcia Jornada; Robertson,Stephen; Morgan,TimSummary Menkes disease is a congenital disorder caused by changes in copper metabolism derived from mutations in the ATP7A gene. It is characterized by physical and neurological alterations. In the neonatal period, these alterations can be nonspecific, which makes early diagnosis a challenge. Diagnosis can be suspected when there are low levels of ceruloplasmin and serum copper. Molecular analysis confirms the ...
Infantile autism and 47,XYY karyotype
Kuczynski,Evelyn; Bertola,Débora Romeo; Castro,Cláudia Irene Emílio de; Koiffmann,Célia Priszkulnik; Kim,Chong A.
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...