Sagittal craniostenosis, congenital heart disease, mental deficiency and various dysmorphies in two sibs--a "new" syndrome?
This is a report on two mentally retarded sibs with similar anomalies (sagittal craniosynostosis, complex cardiovascular malformations, mandibular ankylosis) and various dysmorphic features. They could represent a "new" probably monogenic syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D003398:Craniosynostoses / Q000150:complications* / Q000235:genetics; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male