Shaheen et al. (2013) reported a consanguineous Arab family in which 2 pregnancies were lost because of Meckel syndrome, which was diagnosed prenatally in both cases; 1 was spontaneously aborted, whereas the other was terminated. The second affected ... Shaheen et al. (2013) reported a consanguineous Arab family in which 2 pregnancies were lost because of Meckel syndrome, which was diagnosed prenatally in both cases; 1 was spontaneously aborted, whereas the other was terminated. The second affected pregnancy was complicated by oligohydramnios; prenatal ultrasound showed occipital encephalocele, polydactyly, and polycystic kidney. An unrelated fetus of Arab origin with a similar phenotype was also reported.
In a patient, born of consanguineous Arab parents, with Meckel syndrome type 11, Shaheen et al. (2013) identified a homozygous mutation in the TMEM231 gene (614949.0003). An unrelated Arab patient with the disorder carried a different homozygous mutation ... In a patient, born of consanguineous Arab parents, with Meckel syndrome type 11, Shaheen et al. (2013) identified a homozygous mutation in the TMEM231 gene (614949.0003). An unrelated Arab patient with the disorder carried a different homozygous mutation (614949.0004).