Transcript Sanjad-Sakati Syndrome (SSS): a case report Oral / Dental

Maha Al-Sarheed
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Hypoparathyroidism represent a range of syndrome
characterized by parathyroid hormone deficiency,
hypocalcaemia and hyperphostaemia
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Neonatal hypoparathyroidism is relatively rare, associated
with well defined risk factors such as prematurity, perinatal
asphyxia, and maternal diabetes
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A defect of the 3rd and 4th branchial arches, immune
dysfunction, may present with hypoparathyroidism and
congenital heart disease known as DiGeorg’s syndrome
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Hypoparathyroidism, growth retardation, cortical thickening in
the long bone represent as Kenny-Caffey syndrome
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However, permanent hypoparathyroidism is rare
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A few years ago a report was published on unusual
syndrome of congenital hypoparathyroidism associated
with severe growth failure and dysmorphic features
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Originally described by Sanjad-Sakati in 1988-1991
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Autosomal recessive disorder characteristic by prenatal and
postnatal growth retardation, congenital hypoparathyroidism and
dysmorphic in group of children of consanguineous parents
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Laboratory findings include hypocalcaemia, low serum conc. of
immunoreactive parathyroid hormone and hyperphosphataemia
 Clinical
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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
Differences between DiGeorge’s syndrome and
Sanjad–Sakati syndrome
DiGeorge’s Syndrome
Sanjad–Sakati syndrome
Congenital heart disease
No congenital heart disease
Cellular immunodeficiency
No Cellular immunodeficiency
No severe growth failure
Severe growth failure both
IUGR and Postnatal
Dysmorphic features
Different Dysmorphic features
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A 4-year old Saudi girl referred to dental clinic
complaining of pain in her mouth
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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

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)
 Treatment
since birth:
Calcium supplement (8.1-10.8mmol/day)
Vit. D (0.25-2.0 µg daily)
 Physical
examination
Height 57 cm
Weight 5.8 kg
Small hand and feet
 Immunoglobulins,
complements and T lymphocyte
function are normal
 Recurrent Pseudomonas ear discharges
 Frequent hospitalizations for chest infections
 No congenital heart abnormality
 severe
speech delay
 Mental disability
 Hearing and vision were normal.
 Walked unsupported at the age of 2 years
 No skeletal defects.
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Prominent forehead,
deep-set eyes,
depressed nasal bridge with beaked nose,
Low set ear,
large floppy ear lopes,
long philtrum.
Intra-oral
 Micrognathic
mandible and
maxilla,
 Thin upper lip,
 High arched palate
 Microdontia,
 Enamel hypoplasia defects,
 Dental decayed.
 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
Survival rate for these patients is low due to
recurrent infection (pneumonia)