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non abu

on 13 October 2014

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Transcript of SSS

Syndrome Presentation
Characteristics and features of HRD
parathyroid glands control the amounts of calcium in the blood stream; decreased function of parathyroids
lowered blood calcium which could cause seizures known as hypocalcemic convulsions

mild to moderate MR

short stature caused by low secretions of the growth hormone

Anatomical features

Deep set eyes

Prominent forehead

Depressed (pushed down) nasal bridge with beaked nose

External ear anomalies: Low set ears / enlarged ears

Some cases have abnormal genitalia

Small hands and fee

Clinodactyly: One or more fingers are crooked

(American Journal of Medical Genetics 140A:611–617 (2006))
(American Journal of Medical Genetics 140A:611–617 (2006))
Hearing characteristics
The Will To See: http://www.thewilltosee.com/genetics/

No hearing losses were
• Developmental delays.
• Learning difficulties.

• An autosomal recessive disorder linked to the long arm of chromosome 1.
• Mutations in the tubulin-specific chaperone E (TBCE) gene.

• The syndrome was first reported by Sanjad et al. in 1988.

• Three years later, its inheritance was confirmed by King Faisal Specialist Hospital and Research Centre, Saudi Arabia.

• It is an autosomal recessive disorder found among the Arabian Countries that is mostly associated with consanguinity.

• It’s mainly characterized by a rare case of permanent congenital hypoparathyrodism, severe intrauterine and postnatal growth failure, intellectual deficit, seizures and dysmorphic features.

• It is very similar to the Kenny–Caffey syndrome except for the skeletal abnormalities which haven’t been reported in the cases of HRD.

Sanjad Sakati Syndrome
Retardation Dysmorphism (HRD)

Age of diagnosis
Range from 1st week of life to 12 years of age.
Cognitive characteristics
Mild to moderate mental
Swallowing/feeding issues
Were not reported
Dental features
• Thin upper lips

• Micrognathia

• High arched palate

• Microdontia

• Decayed teeth

• Enamel defects

(International Journal of Paediatric Dentistry 2004; 14: 136–140)
Thank You :)
Bushra Rafique and Saif Al-Yaarubi, Sanjad-Sakati Syndrome in Omani children, Oman Medical Journal 2010, Volume 25, Issue 3, July 2010

M. I. AL-MALIK, The dentofacial features of Sanjad–Sakati syndrome: a case report, International Journal of Paediatric Dentistry 2004; 14: 136–140

Winnie Courtens, Wim Wuyts, Martin Poot, Karoly Szuhai, Jan Wauters, Edwin Reyniers,Marc Eleveld, George Diaz, Markus M. No¨then, and Ruti Parvari, Clinical Report Hypoparathyroidism-Retardation-Dysmorphism Syndrome in a Girl: A New Variant Not Caused by a TBCE, Mutation—Clinical Report and Review, American Journal of Medical Genetics 140A:611–617 (2006)

Questions ???
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