title: A familial syndrome with micrognathia, cleft palate, short neck and stature, vertebral anomalies and mental retardation.
abstract: We report on a male adult and his son both affected with hitherto undescribed multiple congenital anomalies and mental retardation. Both have peculiar facies, cleft palate, short sature, congenital brevicollis and vertebral abnormalities. Chromosomal analysis is normal and an autosomal dominant mode of inheritance is most likely. Genetic aspects and clinical manifestations are compared with those of previous reports of Robin sequence or cleft palate, short stature and vertebral dysostosis.
authors.affiliation: Centre de Génétique Clinique, Service de Pédiatrie I, Amiens, France.
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: A
authors.initials: A
authors.lastname: De Broca
authors.forename: H
authors.initials: H
authors.lastname: Bony
authors.forename: C
authors.initials: C
authors.lastname: Piussan
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002574:Cervical Vertebrae / Q000002:abnormalities*; D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D005146:Facial Asymmetry / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008844:Micrognathism / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype