Disease: Craniosynostosis mental retardation clefting syndrome
- A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome
- Apert Syndrome
- Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study
- Au-Kline Syndrome
- Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities
- Gabriele-de Vries Syndrome
- Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome
- Metopic and Sagittal Craniosynostosis in Williams Syndrome
- Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report
- Muenke Syndrome
- Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums
- Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
- Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome
- Secondary metopic craniosynostosis after posterior cranial decompression in cloverleaf skull deformity
- Shprintzen-Goldberg Syndrome
- Single Suture Synostosis and Isolated Cleft Palate in Non-Apert Syndrome Patients
- Transgenerational adverse effects of valproate? A patient report from 90 affected families