Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by
central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal …

Background: The acronym CHARGE refers to a non-random cluster of malformations
including coloboma, heart malformation, choanal atresia, retardation of growth and/or …

Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial
polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and …

Meckel‐Gruber syndrome (MKS) is a lethal fetal disorder characterized by diffuse renal
cystic dysplasia, polydactyly, a brain malformation that is usually occipital encephalocele …

Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by
central nervous system malformations (typically occipital meningoencephalocele), postaxial …

In type I or classical lissencephaly, two genetic causes, namely the LIS1 gene mapping at
17p13. 3 and the DCX (doublecortin on X) gene mapping at Xq22. 3 are involved. These are …

Papillorenal syndrome also known as renal‐coloboma syndrome (OMIM 120330) is an
autosomal dominant condition comprising optic nerve anomaly and renal …

Birth defects of the brain result from malformation and dis-ruptions. They remain an
important cause of childhood morbidity and mortality. Effective treatments are scarce and …

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and
diaphragmatic defect. This rare association is known as Matthew‐Wood syndrome (MWS; …

Studying morbidity according to age and sex in persons decreased at hospital, the authors
point out that many illnesses grow in frequency with age. Very often too, illnesses grow in …