Sanjad-Sakati Syndrome (SSS): a case report Oral / Dental ( dentofacial features) findings

1. Sanjad-Sakati Syndrome (SSS): a case reportOral / Dental (dentofacial features) findings Maha Al-Sarheed

2. INTRODUCTION Hypoparathyroidism represent a range of syndrome characterized by parathyroid hormone deficiency, hypocalcaemia and hyperphostaemia Neonatal hypoparathyroidism is relatively rare, associated with well defined risk factors such as prematurity, perinatal asphyxia, and maternal diabetes

3. Cont. A defect of the 3rd and 4th branchial arches, immune dysfunction, may present with hypoparathyroidism and congenital heart disease known as DiGeorg’s syndrome Hypoparathyroidism, growth retardation, cortical thickening in the long bone represent as Kenny-Caffey syndrome

4. Cont. However, permanent hypoparathyroidism is rare A few years ago a report was published on unusual syndrome of congenital hypoparathyroidism associated with severe growth failure and dysmorphic features

5. Sanjad-Sakati Syndrome (SSS) • Originally described by Sanjad-Sakati in 1988-1991 • Autosomal recessive disorder characteristic by prenatal and postnatal growth retardation, congenital hypoparathyroidism and dysmorphic in group of children of consanguineous parents • Laboratory findings include hypocalcaemia, low serum conc. of immunoreactive parathyroid hormone and hyperphosphataemia

6. Cont. • Clinical features: • deep set eyes • microcephaly • micrognathia • thin lips • beaked nose • depressed nasal bridge • external ear anomalies • small hands and feet • short stature and learning difficulties

7. Cont. Differences between DiGeorge’s syndrome and Sanjad–Sakati syndrome

8. Case Report • A 4-year old Saudi girl referred to dental clinic complaining of pain in her mouth • Past-medical history: Full term pregnancy, 1800 g weight, Consanguineous parents, Only child for the parent, Continued to have severe growth failure and failure to thrive

9. Cont. • Laboratory findings: Hypocalcaemia since birth, Calcium 1.25 mmol/l (ref 2.1-2.6) Hypoparathyroidismm, Parathyroid hormone < 30 pmol/l (ref 30-85) Hyperphosphataemia, Phosphate 2.7 mmol/l (ref 1.2-1.95)

10. Cont. • Treatment since birth: Calcium supplement (8.1-10.8mmol/day) Vit. D (0.25-2.0 µg daily)

11. Examination • Physical examination Height 57 cm Weight 5.8 kg Small hand and feet

12. Cont. Immunoglobulins, complements and T lymphocyte function are normal Recurrent Pseudomonas ear discharges Frequent hospitalizations for chest infections No congenital heart abnormality

13. Cont. severe speech delay Mental disability Hearing and vision were normal. Walked unsupported at the age of 2 years No skeletal defects.

14. Extra-oral • Prominent forehead, • deep-set eyes, • depressed nasal bridge with beaked nose, • Low set ear, • large floppy ear lopes, • long philtrum.

15. Intra-oral • Micrognathic mandible and maxilla, • Thin upper lip, • High arched palate • Microdontia, • Enamel hypoplasia defects, • Dental decayed.

16. Dental Treatment X-ray was difficult to be taken OHI was given to parent with reduction for any systemic fluoride prescription Under GA, several restorations with SSC and extraction of hopeless teeth was undertaken

17. Survival rate for these patients is low due to recurrent infection (pneumonia)

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