Facial dysmorphism, skeletal anomalies, congenital glucoma

Two novel GJA1 variants in oculodentodigital dysplasia - Pace - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Pictures of patient 1. (A-D) Face, hand, and foot at age 9. Notice the

Congenital corneal anomalies

Craniofacial dysmorphic features in ZSD patients developing over time a

Clinical phenotype of family BDCS1. The facial features of BDCS1-17 at

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features - Le - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

Infantile glaucoma in Rubinstein–Taybi syndrome

PDF) Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations

Axenfeld–Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report, Head & Face Medicine

Patient 3. (A) Facial dysmorphism: short palpebral fissures, short

Secondary Childhood glaucoma – a rare association in Seckel syndrome - Manju R Pillai, Srilekha Pallamparthy, Subathra Gnanavelu, 2023