Increased frequency of congenital heart defects in Menkes disease
Macrocephaly-capillary malformation
A new syndromic craniosynostosis with involvement of the spine, long bones, pelvis, and digits
A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development
Oral–facial–digital syndrome type 1
Acropectoral syndrome
Further characterization of acro-renal-uterine-mandibular syndrome
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome
12-year-old boy with a 4q35.2 microdeletion and involvement of MTNR1A, FAT1, and F11 genes
History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?
Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature
Congenital absence of gluteal muscles, optic nerve hypoplasia, and central nervous system hamartomas