Fallot Complex with Severe Mental and Growth Retardation
摘要
In 1994, Bindewald et al. reported a specific autosomal recessive syndrome in four members (three brothers and one sister) of a Pakistani family with first-cousin parents. Three of these four cases had cardiac abnormalities, including the typical tetralogy of Fallot (Bindewald et al. 1994). Fallot complex with severe mental and growth retardation is an extremely rare syndrome characterized by the tetralogy of Fallot, facial abnormality, severe mental retardation, and growth delay (Fig. 1) (Belengeanu et al. 2005). The exact incidence and prevalence of this syndrome are unknown, but until now, five cases in two different families have been reported in the literature (prevalence <1/1000000) (Orphanet 2010). Symptoms of this disorder could appear in a newborn or infant (GARD 2024).