Disease: Cystic hygroma lethal cleft palate
- A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance
- Cystic hygroma as an early first-trimester ultrasound marker for recurrent Fryns' syndrome
- Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia
- Fowler syndrome-a clinical, radiological, and pathological study of 14 cases
- Lethal multiple pterygium syndrome
- Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies
- MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)
- Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review
- Prenatal Diagnosis of Lethal Multiple Pterygium Syndrome Using Two-and Three-Dimensional Ultrasonography
- Prenatal diagnosis of the pterygium syndrome
- Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome