A total of of cases were developmentally normal, although 37 of these had speech delay. There are certain clinical features that can be used as strong indications for suspecting VCFS as the diagnosis that would prompt clinicians to refer their patients for diagnostic lab procedures. Van Esch et al. Given the high frequency of VCFS among individuals with conotruncal anomalies, newborns with these types of heart anomalies should be screened with FISH if they do not present with another obvious syndrome such as Down syndrome or trisomy This is by no means a comprehensive list of all the craniofacial teams.
As a child he showed learning disabilities and behavioral problems.
Velo-Cardio-Facial Syndrome (VCFS)
A total of of had recorded hypocalcemia; of this group had a history of seizures, and 42 of these had had seizures secondary to hypocalcemia. This research continues, but the possibility that upstream and downstream regulation may modify deleted genes has complicated the picture considerably. Many syndromes have names that cover two or more of these nosologic systems so that their names may be either symptom based, eponyms, or causation, such as branchio-oto-renal syndrome also known as Melnick-Fraser syndromeTreacher Collins syndrome also known as mandibulofacial dysostosisneurofibromatosis type 1 von Recklinghausen diseaseand Apert syndrome acrocephalosyndactyly ; but VCFS covers all of those categories and within the eponym category has multiple names. Since patients with 22q11 deletion are expected to be heterozygous for deletion of the GP1BB genethey can be considered to be carriers of the Bernard-Soulier syndrome Patient Resources Patient Story Two life-threatening conditions.