The first four months of our daughter’s life were very difficult. She cried constantly during the day, napped for only five to 10 minute durations, breastfed for two to five minutes at a time, hiccupped at least 50 times in one go three to four times a day, and made strange grunting noises in her sleep. When I sought help from healthcare professionals, they always began by asking if I was a fir...

Case presentation: M. V. S. R, female, 10 months, post-term, Apgar 6/8, requiring resuscitation at birth, was referred to a pediatric neurologist due delay in neuropsychomotor development, with difficulty fixing the gaze since hypotonia of lower limbs, repetitive movements, lack cervical support and ankyloglossia. The patient also previously suffered two episodes tonic-clonic seizures. On physi...

T-box genes constitute a conserved gene family with important roles in many developmental processes. Several family members have been implicated in human congenital diseases. Recently, mutations in TBX22 were found to cause X-linked cleft palate (CPX and ankyloglossia), a semidominant X-linked disorder affecting formation of the secondary palate. Here, we have cloned the chick ortholog of human...

Epidermolysis bullosa (EB) is a heterogeneous group of rare genetic disorders characterized by marked fragility of the skin and mucous membranes in which vesiculobullous lesions occur in response to trauma, heat or no apparent cause. The recessive form of EB presents the greatest oral alterations including repeated blistering and scar formation leading to limited oral opening, ankyloglossia, to...