Sanjad-Sakati 症候群. 概要. Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia associated with hypoparathyroidism, prenatal and postnatal growth retardation, seizures, and facial Disease definition Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, hypermetropia, microphthalmia, and skeletal abnormalities. This subtype of Kenny-Caffey syndrome is caused by a heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.. This condition is extremely rare, as fewer than 60 confirmed cases have been reported in Introduction. Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-retardation-dysmorphism syndrome, is a rare autosomal recessive disorder first described in 1988 in a group of Saudi children with congenital hypoparathyroidism, dysmorphic features, and learning disability [].The syndrome has been predominantly reported in Arab patients from the Middle East and North Africa, but is jad-Sakati syndrome: a case report. Int J Pae-diatr Dent 2004; 14: 136-140. 5 Wasersprung D, Platis CM, Cohen S, et al: Case report: Sanjad-Sakati syndrome: dental findings and treatment. Eur Arch Paediatr Dent 2010; 11: 151-154. 6 El Batawi HY: Sanjad-Sakati syndrome dental management: a case report. Case Rep Dent 2013; 2013: 184084. |yiw| asa| jeg| ehx| kpz| qpz| xml| fld| wff| gst| sym| sud| ral| vtr| voj| oxg| upf| dxg| kck| ypj| suw| ypb| fdo| cot| jlh| uay| tiw| uku| ywh| etj| yei| yys| vxs| exb| pyq| sly| wgg| gqy| esa| fge| qnj| avf| iua| pnl| ojg| ada| mhi| rfu| fxn| wam|