title: Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.
abstract: 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.
authors: Wallonia Centre for Human Genetics, Liège University, Liège, Belgium.
authors: A
authors: A
authors: Verloes
authors: M F
authors: MF
authors: Dresse
authors: H
authors: H
authors: Keutgen
authors: C
authors: C
authors: Asplund
authors: C I
authors: CI
authors: Smith
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000473:pathology*; D002675:Child, Preschool; D003241:Consanguinity; D004268:DNA-Binding Proteins; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D008850:Microphthalmos / Q000473:pathology*; D009154:Mutation; D051757:PAX5 Transcription Factor; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D011506:Proteins / Q000235:genetics; D013933:Thumb / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D051757:PAX5 Transcription Factor; C497281:PAX5 protein, human; D011506:Proteins; D014157:Transcription Factors; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase