A novel de novo ATP2B1 variant causes autosomal dominant intellectual developmental disorder 66 by disrupting calcium homeostasis via impaired membrane trafficking.

Background. The problem of clinical value of neonatal screening for congenital dysplasia of the hip was described in this paper.<br /> Material and methods. We have analyzed clinical and sonographicall documentation of a random group of 4950 children from years 1991, 1995 and 1999 treated in Outpatient Clinic for Screening of Congenital Dislocation of the Hip in Children Hospital of Medical University in Białystok, to asses clinical value of our screening program. <br /> Results. Congenital dysplasia (type IIb - IV according to Graf classification) was found in 3.27%, 3.3% and 2.97 of all children scanned in years 1991, 1995 and 1999 respectively. We have observed increasing number of children scanned before the end of fourth week of life (36.97%, 67.82%, 75.76% in years 1991, 1995 and 1999 respectively). The number of patients with late diagnosis of congenital hip dysplasia (after twelfth week of life) were decreasing with every year (59.26%, 16.51%, 12.24% in years 1991, 1995 and 1999 respectively). Also the number of subluxated and dislocated hips (type III and IV according to Graf classification) was decreasing with years (9, 0 and 1in years 1991, 1995 and 1999 respectively).<br /> 22 out of 108 hips with dysplasia could be included into the high risk group in year 1991 and 19 out of 109, and 22 out of 98 in years 1995 and 1999 respectively.<br /> Conclusions. Results of our analysis allowed us to conclude that neonatal screening for congenital hip dysplasia in all newborns is very useful in preventing and treating hip subluxation and dislocation. Limiting this screening only to the children from the high risk group caries the danger of significant increase in late diagnosis of hip dysplasia and thus following dislocation of the hip.