Embryofetopathy due to maternal phenylketonuria (Q39987): Difference between revisions
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A fenilalaninemia materna refere-se a anomalias de desenvolvimento que podem ocorrer em filhos de mulheres afetadas por fenilcetonúria (PKU) e incluem distúrbios de desenvolvimento fetal, incluindo microcefalia, retardo de crescimento intrauterino e consequente déficit intelectual e distúrbios de desenvolvimento embrionário, como defeitos cardíacos (geralmente conotruncais) , agenesia do corpo caloso, distúrbios da migração neuronal, dismorfismo facial e mais raramente fenda palatina, e anomalias traqueoesofágicas. | |||
| description / en | description / en | ||
Maternal phenylalaninaemia refers to developmental anomalies that may occur in offspring of women affected by phenylketonuria (PKU), and include fetal development disorders, including microcephaly, intrauterine growth retardation, and subsequent intellectual deficit, and embryo development disorders such as heart defects (usually conotruncal), corpus callosus agenesis, neuronal migration disorders, facial dysmorphism and more rarely cleft palate, tracheo-oesophageal abnormalities. | |||
Revision as of 05:37, 13 August 2026
Maternal phenylalaninaemia refers to developmental anomalies that may occur in offspring of women affected by phenylketonuria (PKU), and include fetal development disorders, including microcephaly, intrauterine growth retardation, and subsequent intellectual deficit, and embryo development disorders such as heart defects (usually conotruncal), corpus callosus agenesis, neuronal migration disorders, facial dysmorphism and more rarely cleft palate, tracheo-oesophageal abnormalities.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C50.02 |
||
| English | Embryofetopathy due to maternal phenylketonuria |
Maternal phenylalaninaemia refers to developmental anomalies that may occur in offspring of women affected by phenylketonuria (PKU), and include fetal development disorders, including microcephaly, intrauterine growth retardation, and subsequent intellectual deficit, and embryo development disorders such as heart defects (usually conotruncal), corpus callosus agenesis, neuronal migration disorders, facial dysmorphism and more rarely cleft palate, tracheo-oesophageal abnormalities. |
