Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in both the neural crest and mesoderm during eye development. A 4-year-old girl with bilateral ARS had 20 prism diopters (PD) of exotropia with 30PD of A- pattern deviation, more than 20PD of dissociated vertical deviation (DVD), and severe superior oblique overaction (SOOA). During surgery we observed that the SO inserted more posteriorly than normal. We believe this finding is one of the abnormal manifestations of the development of the extraocular muscles in ARS.
*Abnormalities, Multiple ; Anterior Eye Segment/*abnormalities ; Child, Preschool ; Eye Abnormalities/*diagnosis/surgery ; Eye Movements ; Female ; Follow-Up Studies ; Humans ; Oculomotor Muscles/*abnormalities/surgery ; Ophthalmologic Surgical Procedures/*adverse effects ; Optic Nerve/abnormalities ; Postoperative Complications ; Sclera/*pathology/surgery ; Syndrome ; Tooth Abnormalities/*genetics

KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this syndrome. We describe a 6-yr-old Korean boy with features of KBG syndrome. The patient had a short stature, macrodontia, dysmorphic facial features, speech and motor delay with intellectual disability, and partial seizures as indicated by the electroencephalogram, but he was neither autistic nor had autism spectrum disorders. Using high-resolution oligonucleotide array comparative genomic hybridization, we identified a heterozygous 240-kb deletion at 16q24.3 corresponding to ANKRD11. This patient provided additional evidence on the influence of ANKRD11 in KBG syndrome and suggested that deletion limited to ANKRD11 is unlikely to cause autism.
Abnormalities, Multiple/diagnosis/*genetics ; Asian Continental Ancestry Group/*genetics ; Bone Diseases, Developmental/diagnosis/*genetics ; Child ; Chromosomes, Human, Pair 16 ; Comparative Genomic Hybridization ; Electroencephalography ; Facies ; Gene Deletion ; Heterozygote ; Humans ; Intellectual Disability/diagnosis/*genetics ; Male ; Phenotype ; Repressor Proteins/*genetics ; Republic of Korea ; Tooth Abnormalities/diagnosis/*genetics

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.
Adult ; Ellis-Van Creveld Syndrome ; diagnosis ; genetics ; surgery ; Genes, Recessive ; Hand Deformities ; complications ; Humans ; Life Expectancy ; Male ; Mitral Valve Insufficiency ; surgery ; Prognosis ; Quality of Life ; Tooth Abnormalities ; complications