Case Presentation: A two-year-old boy, born to non-consanguineous parents, was referred to medical genetics due to neurodevelopmental delay, peripheral hypotonia, congenital macrocephaly, and persistent mild hyperammonemia. His medical history included an incarcerated inguinal hernia and right cryptorchidism, both surg...
Laura Delai, M. Broch, Isadora Ferrari et al.· ANPAbstract_CBN26· 0 citations
Case Presentation: A male patient, born to non-consanguineous parents, was referred to medical genetics due to congenital central hypotonia, motor developmental delay, and craniofacial dysmorphisms. Physical examination revealed a broad forehead, low nasal bridge and saddle nose, telecanthus, narrow palpebral fissures,...
M. Broch, Laura Delai, Isadora Ferrari et al.· ANPAbstract_CBN26· 0 citations
Case Presentation: An 8-year-old female, born to non-consanguineous parents, was referred to medical genetics due to congenital heart disease, neonatal hypotonia, polyhydramnios, and macrocephaly. During the prenatal period, Noonan syndrome was suspected. She was born prematurely at 33 weeks and presented with hypotoni...
M. Broch, Laura Delai, Isadora Ferrari et al.· ANPAbstract_CBN26· 0 citations
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