Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome

MeSH terms

• Abnormalities, Multiple / genetics*
• Abnormalities, Multiple / mortality
• Cleft Palate / genetics
• Dermatoglyphics
• Ear / abnormalities
• Facial Expression*
• Female
• Hand Deformities, Congenital*
• Humans
• Infant
• Limb Deformities, Congenital*
• Male
• Motor Skills
• Ureteral Obstruction / congenital*
• Uvula / abnormalities*
• Voice