While congenital cleft palate is thought to be an interaction of hereditary and environmental factors, acquired (ACP) caused commonly by cocaine inhalation in western countries. Other causes include infective (Tb, tertiary syphilis); trauma; connective tissue disease (SLE, vasculitis Wagner’s granulomatosis; sarcoidosis idiopathic. An uneducated 45-year-old presented with febrile skin eruption ...

Congenital fibrosis of the extraocular muscles (CFEOM) is a congenital cranial dysinnervation disorder caused by developmental abnormalities affecting nerves/nuclei innervating muscles. Autosomal dominant CFEOM arises from heterozygous missense mutations KIF21A or TUBB3. Although spatiotemporal expression studies have shown and TUBB3 in developing retinal ganglion cells, it unclear whether exte...

Human autosomal recessive polycystic kidney disease (ARPKD) produces kidneys which are massively enlarged due to multiple cysts, hypertension, and congenital hepatic fibrosis characterized by dilated bile ducts and portal hypertension. The PCK rat is an orthologous model of human ARPKD with numerous fluid-filled cysts caused by stimulated cellular proliferation in the renal tubules and hepatic ...

BACKGROUND Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atre...