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Sanjad-Sakati Syndrome

SSS


Presentation

  • We report a 6-year-old boy who presented with status epilepticus, who had facial dysmorphism, growth and mental retardation.[ncbi.nlm.nih.gov]
  • Present No Retrognathia Present No No Prominent forehead Present Present No Deep set eyes Present Present Mild Thin lips Present Present Present Depressed nasal bridge Present Present Present Beaked nasal tip Yes Yes Yes Low set ears(fig 1) Present Present[alliedacademies.org]
  • This report presents the case of a 4-year-old patient who was referred to our dental clinic because of pain in her mouth and poor dental health.[ncbi.nlm.nih.gov]
  • Hyperopic astigmatism was present in 16 (94%) patients. CONCLUSION: Patients with SSS display a variety of ocular findings including errors of refraction, strabismus, and retinal vascular tortuousity.[ncbi.nlm.nih.gov]
  • Here, we present a 20-year-old male child from India presenting with childhood-onset, recurrent generalized seizures, which were poorly controlled with multiple antiepileptics.[ijcpjournal.org]
Recurrent Bacterial Infection
  • A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460).[scienceopen.com]
Recurrent Respiratory Infections
  • Potential perioperative concerns include phenotypic features that may make airway management challenging, seizures, hypocalcemia, recurrent respiratory infections, and sensitivity to muscle relaxants.[saudija.org]
Hypoventilation
  • Although central hypoventilation has not been frequently reported in the literature for this syndrome, patients need to be investigated early in life and home ventilation should be provided to prevent further complications.[ncbi.nlm.nih.gov]
  • These patients have a higher incidence of central hypoventilation syndrome, which should be confirmed by polysomnography. Postoperative ICU or high dependency unit admission should be considered in these cases.[saudija.org]
  • .  central hypoventilation  obstructive sleep  Partial Agenesis of Corpus Callosum Eli Hershkovitz, Reli Hershkovitz, Lora Hertzug, Rafael Gorodischer, Moshe Mazor and Ruti Parvari.[slideshare.net]
  • The patient had chronic respiratory insufficiency, respiratory distress, and central hypoventilation caused by obstructive sleep apnea.[cags.org.ae]
Constipation
  • Her problem list included hypoparathyroidism, hypocalcemia, nephrocalcinosis, hypothyroidism, growth retardation, seizure disorder, superior mesenteric artery syndrome, recurrent respiratory infections, and constipation.[saudija.org]
  • An interesting problem observed by one of the Authors (MAA) in older children is severe constipation with gut dilatation.[docksci.com]
Malocclusion
  • Other features [ edit ] Other features include: Stunting Small hands and feet with long, tapering fingers and clinodactyly Dental anomalies in the form of malalignment and malocclusion In another study of six patients, there were low levels of IGF-1 and[en.wikipedia.org]
  • Other features [ edit ] Other features include: Stunting Small hands and feet with long, tapering fingers and clinodactyly Dental anomalies in the form of malalignment and malocclusion In another study of six patients, [1] the patients were investigated[wikivisually.com]
  • Other features Other features include: Stunting Small hands and feet with long, tapering fingers and clinodactyly Dental anomalies in the form of malalignment and malocclusion In another study of six patients, [1] the patients were investigated further[howlingpixel.com]
  • Orodental manifestations of SSS include a high arched palate, microdontia, hypodontia, taurodontism, enamel hypoplasia, and malocclusion [ 4 , 5 , 6 ]; recognition of orodental manifestations might help distinguish SSS from other syndromes associated[ncbi.nlm.nih.gov]
  • Orodental manifestations of SSS include a high arched palate, microdontia, hypodontia, taurodontism, enamel hypoplasia, and malocclusion [ 4 - 6 ]; recognition of orodental manifestations might help distinguish SSS from other syndromes associated with[karger.com]
Enamel Anomaly
  • anomaly - Repeat respiratory infections Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Astigmatism - Corneal clouding / opacity / vascularisation - Dilated cerebral ventricles without hydrocephaly - Intestinal obstruction[csbg.cnb.csic.es]
Blue Sclera
  • All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients.[ncbi.nlm.nih.gov]
  • sclera Low-set ears Large forehead Beaked or sharp nose Long philtrum (groove below the nose) Thin lips External ear abnormalities Depressed nasal bridge Diagnosis and Testing SSS is an autosomal recessive disorder caused by mutations in the gene TBCE[forgottendiseases.org]
  • Short statures, small hands and feet, and dysmorphic facial features (deep-set eyes, peaked noses, blue sclera, and large floppy ear lobules) were present in all patients ( Figures 1 – 4 ).[ncbi.nlm.nih.gov]
Small Hand
  • All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients.[ncbi.nlm.nih.gov]
  • hands and feet, smallgenitalia, hypoparathyroidism, and severe pre- and postnatal growthretardation C.H.: c.66-67del c.1113T A Jordan 8 Short stature, microcephaly, deep-set eyes, small hands and feet,mental retardation and learning difficulties, hypoparathyroidism[alliedacademies.org]
  • The craniofacial features and growth retardation with small hands and feet impart such a characteristic appearance on these patients that makes the diagnosis easy once one had seen a case previously [3].[docksci.com]
  • The craniofacial features and growth retardation with small hands and feet impart such a characteristic appearance on these patients that makes the diagnosis easy once one had seen a case previously [ 3 ].[ncbi.nlm.nih.gov]
Small Foot
  • foot - Small hand / acromicria - Thin / retracted lips Frequent - Anomalies of teeth and dentition - Enamel anomaly - Repeat respiratory infections Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Astigmatism - Corneal clouding[csbg.cnb.csic.es]
  • (very frequent sign) seizures (any type) (very frequent sign) short stature/dwarfism (very frequent sign) small foot (very frequent sign) small hand (very frequent sign) thin lips (very frequent sign) teeth anomalies (frequent sign) thick ear lobe (frequent[whonamedit.com]
Small Foot
  • foot - Small hand / acromicria - Thin / retracted lips Frequent - Anomalies of teeth and dentition - Enamel anomaly - Repeat respiratory infections Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Astigmatism - Corneal clouding[csbg.cnb.csic.es]
  • (very frequent sign) seizures (any type) (very frequent sign) short stature/dwarfism (very frequent sign) small foot (very frequent sign) small hand (very frequent sign) thin lips (very frequent sign) teeth anomalies (frequent sign) thick ear lobe (frequent[whonamedit.com]
Carpopedal Spasm
  • Full clinical picture of tetany, including carpopedal spasm, laryngospasm, muscle cramps, paraesthesia, Chvostek sign,Trousea’s sign, bulging anterior fontanele, bradycardia, heart failure and generalized oedema, are some of the less common signs [5].[docksci.com]
  • Full clinical picture of tetany, including carpopedal spasm, laryngospasm, muscle cramps, paraesthesia, Chvostek sign, Trousea’s sign, bulging anterior fontanele, bradycardia, heart failure and generalized oedema, are some of the less common signs [ 5[ncbi.nlm.nih.gov]
Muscle Spasm
  • Patients experiencing hypoparathyroidism may feel tingling in their fingers, toes, or lips, and have muscle cramps and/or muscle spasms. They may also feel weak or nervous, have headaches, and/or memory loss.[forgottendiseases.org]
Beaked Nose
  • The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. An oral examination revealed oligodontia/hypodontia, small dental arches, a high arched palate, and a deep overbite and increased overjet.[ncbi.nlm.nih.gov]
  • The clinical features include deep set eyes, microcephaly, thin lips, depressed nasal bridge with beaked nose, external ear anomalies and learning difficulties.[ncbi.nlm.nih.gov]
  • nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency.[orpha.net]
  • nose Large, floppy ears Small head (microcephaly) and Thin lips with a long philtrum. 9 Reply[dailyrounds.org]
Beak Nose
  • The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. An oral examination revealed oligodontia/hypodontia, small dental arches, a high arched palate, and a deep overbite and increased overjet.[ncbi.nlm.nih.gov]
  • The clinical features include deep set eyes, microcephaly, thin lips, depressed nasal bridge with beaked nose, external ear anomalies and learning difficulties.[ncbi.nlm.nih.gov]
  • nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency.[orpha.net]
  • nose Large, floppy ears Small head (microcephaly) and Thin lips with a long philtrum. 9 Reply[dailyrounds.org]
Thin Lips
  • The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. An oral examination revealed oligodontia/hypodontia, small dental arches, a high arched palate, and a deep overbite and increased overjet.[ncbi.nlm.nih.gov]
  • The clinical features include deep set eyes, microcephaly, thin lips, depressed nasal bridge with beaked nose, external ear anomalies and learning difficulties.[ncbi.nlm.nih.gov]
  • lips and micrognathia), and mild to moderate intellectual deficiency.[orpha.net]
  • lips Present Present Present Depressed nasal bridge Present Present Present Beaked nasal tip Yes Yes Yes Low set ears(fig 1) Present Present Normal ears Big rotated ears Yes No No Microtia No No Minimal Lips Thin lips with long philtrum Thin lips Thin[alliedacademies.org]
  • lips with a long philtrum. 9 Reply[dailyrounds.org]
Neglect
  • People with poor systemic conditions and physical limitations are prone to dental health neglect. Early professional advice and treatment, and periodical follow-up can improve quality of life of these patients.[ncbi.nlm.nih.gov]
Delayed Milestone
  • milestones Delayed milestones Delayed milestones Consanguinity First degree First degree No Micrognathia Present Present No Retrognathia Present No No Prominent forehead Present Present No Deep set eyes Present Present Mild Thin lips Present Present[alliedacademies.org]

Workup

  • METHODS: Each patient underwent a complete ophthalmologic evaluation including visual acuity assessment, orthoptic workup, slit-lamp biomicroscopy, intraocular pressure measurement, cycloplegic retinoscopy, funduscopy, corneal diameter, and axial length[ncbi.nlm.nih.gov]
  • Methods: Each patient underwent a complete ophthalmologic evaluation including visual acuity assessment, orthoptic workup, slit-lamp biomicroscopy, intraocular pressure measurement, cycloplegic retinoscopy, funduscopy, corneal diameter, and axial length[tandfonline.com]
  • HP should be considered in the differential diagnosis of spondyloarthropathies and myopathies, and calcium may be included in the diagnostic workup of these patients. REFERENCES 1. Korkmaz C, Yasan S.[scielo.br]
Delayed Bone Age
  • bone age - Depressed nasal bridge - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - High forehead - Hyperphosphtemia - Hypocalcemia - Hypoparathyroidy - Intellectual[csbg.cnb.csic.es]
  • Other medical problems that occur in SSS are as follows: Common problems in Sanjad-Sakati syndrome Microcephaly (small head) Delayed bone age Small hands and/or feet Short or very short stature Low birthweight Failure to thrive Low blood calcium High[forgottendiseases.org]
  • bone age Delayed bone age Osteosclerosis Patchy osteosclerosis Poorly ossified skull bones Thickened cortex and narrow marrow cavities of long bones Small hands and feet Calvarial osteosclerosis Medullary stenosis of tubular bones Small hands and feet[ncbi.nlm.nih.gov]
Delayed Bone Age
  • bone age - Depressed nasal bridge - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - High forehead - Hyperphosphtemia - Hypocalcemia - Hypoparathyroidy - Intellectual[csbg.cnb.csic.es]
  • Other medical problems that occur in SSS are as follows: Common problems in Sanjad-Sakati syndrome Microcephaly (small head) Delayed bone age Small hands and/or feet Short or very short stature Low birthweight Failure to thrive Low blood calcium High[forgottendiseases.org]
  • bone age Delayed bone age Osteosclerosis Patchy osteosclerosis Poorly ossified skull bones Thickened cortex and narrow marrow cavities of long bones Small hands and feet Calvarial osteosclerosis Medullary stenosis of tubular bones Small hands and feet[ncbi.nlm.nih.gov]

Treatment

  • Early professional advice and treatment, and periodical follow-up can improve quality of life of these patients.[ncbi.nlm.nih.gov]
  • Treatment was carried out under general anaesthesia to extract the most severely affected teeth and restore those which could be conserved.[ncbi.nlm.nih.gov]
  • We report the anesthesia management of a 12-year-old boy with SSS for dental treatment, and discuss the anesthesia implications of this disorder.[ncbi.nlm.nih.gov]
  • It was difficult to treat the patient's hyperphosphatemia and we ultimately selected sevelamer treatment, which was tolerated well and improved his hypocalcemia.[ncbi.nlm.nih.gov]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]

Prognosis

  • However, calcium and vitamin D supplements may help the affected individuals manage the symptoms of the condition better The prognosis of Kenny-Caffey Syndrome Type 1 is determined by the severity of the disorder.[dovemed.com]
  • Prognosis - Sakati syndrome Not supplied. Treatment - Sakati syndrome Not supplied. Resources - Sakati syndrome[checkorphan.org]
  • PROGNOSIS  recurrent infections, is the cause of death in at least 27%.  rare cases have survived up to the age of 18 years. 18.[slideshare.net]
  • In generalized sclerocornea, early keratoplasty should be considered to provide vision, although the prognosis is guarded. [2] It has been argued that the term “sclerocornea” should be regarded only as a sign but not a diagnosis.[emedicine.medscape.com]

Etiology

  • Localization of the KCS/SSS gene at 1q42-q43 rules out an etiologic role for mutation in the parathyroid hormone (PTH), PTH receptors-1 and 2, and the calcium-sensing receptor genes in these disorders.[nature.com]
  • An association with abnormal facies, mental retardation, bilateral lenticular cataracts, extensive intracranial calcifications, and manifestation of the disease from early childhood suggests a congenital or hereditary etiology.[ijcpjournal.org]
  • To our knowledge, there is only one published case of mild HRD-like syndrome with no identifiable genetic etiology. Read More Sanjad-Sakati Syndrome: Oral Health Care. Med Princ Pract 2018 13;27(3):293-296. Epub 2018 Mar 13.[pubfacts.com]
  • Idiopathic hypoparathyroidism is an induced or inherited condition of unknown etiology and is characterized by insufficient secretion of parathyroid hormone due to atrophy or absence of parathyroid glands, which leads to hypocalcaemia and hyperphosphatemia[scielo.br]
  • Hypodontia – a retrospective review of prevalence and etiology. Part I. Quintessence Int 2005;36:263-270. 20. Scully C. Down’s syndrome: aspects of dental care. J Dent 1975;4:167-174. Accepted May 15, 2007[zdoc.site]

Epidemiology

  • It opens by addressing in detail the anatomy and physiology of the parathyroids and describing the epidemiology and clinical presentation of hypoparathyroidism.[books.google.com]
  • Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology[books.google.com]
  • SSS Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Table 1 Epidemiological, clinical, and radiological data for the studied patients Variable n (%) Age Range [mean] 9 months–12 years [mean: 4.9 years] Sex Male 11 (45.8) Female 13 (54.2) Gestational age Preterm 3 (12.5) Full term 21 (87.5) Family and perinatal[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology[books.google.com]
  • […] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology[books.google.com]

Prevention

  • It was concluded that these patients have special dental needs; early diagnosis of the affected children is therefore important in order to commence preventive dental therapy and carry out appropriate dental treatment at the optimum time.[ncbi.nlm.nih.gov]
  • Many children born with KCS succumb by early infancy, due to the various complications and bone deformities that arise from the disorder Presently, Kenny-Caffey Syndrome Type 1 is a genetic disorder that cannot be prevented.[dovemed.com]
  • Conclusion: This diagnosis allowed for proper treatment of the patients, prevented associated co-morbidities, provided a genetic counseling to their families, and enriched the genetic data concerning this syndrome on the Egyptian population being reported[ingentaconnect.com]
  • Repository: NINDS Repository (4840) NIGMS Human Genetic Cell Repository (3244) NIA Aging Cell Culture Repository (283) NIAID - USIDnet (11) Autism (6) Centers for Disease Control and Prevention Repository (2) Collection: Tourette Syndrome (4329) Heritable[coriell.org]

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