The field of clinical genetics and genomics continues to evolve. In the past few decades,
milestones like the initial sequencing of the human genome, dramatic changes in …

Several recurrent malformation associations affecting the development of the embryo have
been described in which a genetic etiology has not been found, including LBWC, MURCS …

Congenital anomalies are present in at least 10% of all NICU admissions, many of whom
have an underlying genetic condition. 1 Neonatologists are often the first physicians to …

Diabetes mellitus, whether preexisting or gestational, poses significant risk to both the
mother and the developing fetus. A myriad of potential fetal complications in the setting of …

Femoral‐facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia‐unusual
face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and …

Dear Editor, Obesity and type 2 diabetes (T2D) often but, not invariably, coexist. We
examined the transcriptomes and methylomes of subcutaneous adipose (SAT) and visceral …

Background Polydactyly is a congenital abnormality characterized by the presence of
additional fingers on one or more extremities. In Colombia, polydactyly accounted for 17% of …

Polydactyly is a condition in which one or more extra digits are present. The extra digit can
be located on the ulnar or fibular side of the extremity (postaxial), the radial or tibial side of …

Congenital lumbar hernia is a rare anomaly consisting of protrusion of abdominal organs or
extraperitoneal tissue through a defect in the lateral abdominal wall. The majority of affected …

While the correlation between diabetes during pregnancy and birth defects is well-
established, how hyperglycemia causes developmental abnormalities remains unclear. In …