Disease: Dandy Walker malformation postaxial polydactyly
- 46,XY/47,XY, + 17p + mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype
- A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome
- A new report of mesomelic camptomelia, polydactyly and Dandy-Walker complex in siblings
- Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome)
- Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly
- Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report
- Dandy-Walker anomaly in Meckel-Gruber syndrome
- Dandy-Walker malformation and postaxial polydactyly: nosological comments
- Dandy-Walker malformation with postaxial polydactly: a new case of Pierquin syndrome
- Dandy-Walker malformation with postaxial polydactyly: a new syndrome?
- Dandy-Walker malformation with postaxial polydactyly: further evidence for autosomal recessive inheritance
- Dandy-Walker syndrome with postaxial polydactyly associated with facial dysmorphism and bone abnormalities
- Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association
- Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases
- Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings
- Neuropathologic findings in a case of OFDS type VI (Váradi syndrome)
- OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs
- Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?
- Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation
- Orofaciodigital syndrome type III in two sibs
- Postaxial polydactyly and Dandy-Walker malformation. Further nosological comments
- Prenatal diagnosis of episodic tachypnea in an infant with OFD VI
- Prenatal diagnosis of Joubert syndrome: a case report
- Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation
- Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II
- Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome