Sanjad-Sakati Syndrome in a 35-day-old Iraqi Infant: A Case Report.

ABSTRACT: Sanjad-Sakati syndrome is a rare autosomal recessive genetic disorder that presents solely in Arabian people. Our case was reported from the Fallujah Teaching Hospital for Women and Children in Fallujah, Iraq. This syndrome is associated with hypoparathyroidism, growth retardation, atypical facial appearance, and a variable degree of mental retardation. It is usually caused by genetic mutations of the tubulin-folding cofactor E (TBCE; 604934), which is located on the 1q42.3 chromosome. This case was confirmed by a genetic study which revealed a pathogenic variant in the homozygous state in the ^TBCE gene. Typically, the physical features of this case involve microcephaly, long and narrow face, beaked nose, deep-set eyes, large ears, thin lips, long philtrum, micrognathia, and small hands and feet. Although Sanjad-Sakati syndrome is an incurable disease, early diagnosis helps with appropriate palliative treatment of the patient, reducing other associated metabolic and electrolyte disturbances, and allows for a genetic study and counseling of the family, especially in our society due to the high rate of consanguinity.

SUBMITTER: Al Ajeli MH 

PROVIDER: S-EPMC10909074 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature