Objective In preclinical reproductive studies, leflunomide was found to be embryotoxic and
teratogenic. Women treated with leflunomide are advised to avoid pregnancy; those who …

… Hoganson MD 2 , Darrell Waggoner MD 3 , Brad Tinkle MD 4 , Stephen R. Braddock MD
5 , Michael Schneider MD, PhD 6 , Dorothy K. Grange MD 7 , Claudia Nash MS 8 , Heather …

The genetic testing and genetic screening of children are commonplace. Decisions about
whether to offer genetic testing and screening should be driven by the best interest of the child. …

Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia
variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), …

Transcription factors operate in developmental processes to mediate inductive events and
cell competence, and perturbation of their function or regulation can dramatically affect …

Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by
ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-…

Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. This study
of Kabuki syndrome had two objectives. The first was to further describe the syndrome …

Renal-coloboma syndrome is a recently described autosomal dominant syndrome of
abnormal optic nerve and renal development. Two families have been reported with renal-…

Cohen syndrome was initially described as a syndrome including obesity, hypotonia, mental
deficiency, and facial, oral, ocular and limb anomalies. Leukopenia, especially neutropenia, …

Cerebellar malformations are diverse congenital anomalies frequently associated with
developmental disability. Although genetic and prenatal non-genetic causes have been described…