Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 May 27:6:393-8.
doi: 10.2147/IJGM.S40930. Print 2013.

Neurological manifestations in children with Sanjad-Sakati syndrome

Ahmed Farag Elhassanien  1 , Hesham Abdel-Aziz Alghaiaty
Affiliations

Neurological manifestations in children with Sanjad-Sakati syndrome

Ahmed Farag Elhassanien et al. Int J Gen Med. .

Abstract

Background: Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-mental retardation-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features.

Objective: The objective of this study was to clarify the clinical and neurological features of SSS.

Patients: Twenty-four patients were included in the study. They were seen at two hospitals in Kuwait.

Methods: This was a retrospective study of patients with SSS who attended the pediatric endocrinology, genetic, and neurology clinics in the Aladan and Alfarawanya hospitals in Kuwait from September 2007 to September 2012. Clinical and radiological data were obtained from each patient's medical records.

Results: All 24 patients had the characteristic dysmorphic features and laboratory findings of SSS. Consanguinity was reported in 75% of parents. Neurological manifestations in the form of microcephaly, developmental delay, mental retardation, and seizures were reported in all patients. Computerized tomography scans and/or magnetic resonance imaging showed evidence of intracranial calcifications in 29.2% of patients. Two patients showed a thin corpus callosum, and one patient showed intraventricular hemorrhaging.

Conclusion: Patients with SSS display a variety of dysmorphic features and neurological manifestations, including microcephaly, mental retardation, intracranial calcification, and epilepsy.

Keywords: Sanjad–Sakati syndrome; children; mental retardation; microcephaly; neurological manifestations.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Facial features of a 12-year-old girl with Sanjad–Sakati syndrome.
Figure 2
Figure 2
Facial features of an 8-year-old girl with Sanjad–Sakati syndrome.
Figure 3
Figure 3
Facial features of a 1-year-old girl with Sanjad–Sakati syndrome.
Figure 4
Figure 4
The small hands of a 1-year-old girl with Sanjad–Sakati syndrome.
Figure 5
Figure 5
Medullary stenosis with osteoscelosis in a patient with Sanjad–Sakati syndrome.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Sanjad S, Sakati N, Abu-Osba Y. Congenital hypoparathyroidism with dysmorphic features: a new syndrome. Pediatr Res. 1988;23:271A. - PMC - PubMed
    1. Sanjad SA, Sakati NA, Abu-Osba YK, Kaddora R, Milner RDG. A new syndrome of congenital hypoparathyroidism, seizure, growth failure and dysmorphic features. Arch Dis Child. 1991;66:193–196. - PMC - PubMed
    1. Naguib KK, Gouda SA, Elshafey A, et al. Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. East Mediterr Health J. 2009;15(2):345–352. - PubMed
    1. Al-Malik MI. The dentofacial features of Sanjad-Sakati syndrome: a case report. Int J Paediatr Dent. 2004;14:136–140. - PubMed
    1. Kelly TE, Blanton S, Saif R, Sanjad S, Sakati N. Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism syndrome (OMIM 241410) locus to chromosome 1q42-43. J Med Genet. 2000;37(1):63–64. - PMC - PubMed