Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia
| Autor: | C. I. Edvard Smith, Charlotta Asplund, Alain Verloes, Henri Keutgen, Marie-Françoise Dresse |
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| Předmět: |
Male
Microcephaly Limb Deformities Congenital Microphthalmia Adducted thumb Consanguinity Agammaglobulinemia medicine Agammaglobulinaemia Tyrosine Kinase Humans Microphthalmos Abnormalities Multiple Genetics (clinical) Anophthalmia business.industry Mild intrauterine growth retardation PAX5 Transcription Factor Infant Proteins Anatomy Protein-Tyrosine Kinases Toes medicine.disease Blepharophimosis Hypoplasia DNA-Binding Proteins Skull medicine.anatomical_structure Thumb Child Preschool Face Mutation business Transcription Factors |
| Zdroj: | Karolinska Institutet |
| Popis: | We report a boy, born to consanguineous patients, with agammaglobulinemia associated with multiple physical anomalies: mild intrauterine growth retardation, extreme microphthalmia (clinical anophthalmia), severe microcephaly, blepharophimosis, long face with temporal narrowing, scaphocephalic skull shape, posterior cleft palate, hypoplastic, adducted thumbs with small nails, and short, inward turned halluces with absent distal phalanges and nails. Psychomotor development was moderately delayed. No mutations were found in exons of BKT and PAX-5 genes. This unreported constellation could represent a novel, autosomal recessive syndrome. |
| Databáze: | OpenAIRE |
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