Monosomy 5p

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

Encephalocele

A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.


Total: 2

                       


(per page)
PMID (PMCID)
16215919
 FEMALE Adult
Prenatal diagnosis of cri du chat syndrome with encephalocele.
Bakkum JN, Watson WJ, Johansen KL, Brost BC.
Am J Perinatol. 2005;22(7):351-2.
Although cri du chat syndrome has been noted in association with central nervous system malformations, encephalocele is a rare finding in this syndrome.
16215919
 FEMALE Adult
Prenatal diagnosis of cri du chat syndrome with encephalocele.
Bakkum JN, Watson WJ, Johansen KL, Brost BC.
Am J Perinatol. 2005;22(7):351-2.
Prenatal diagnosis of cri du chat syndrome with encephalocele.