Updates to Case Attributes Presentation was changed: Arabian boy, his parents gave old history. [radiopaedia.org]

The objective of this case report is to present the successful anaesthetic management of a rare genetic endocrinal syndrome. [sciencerepository.org]

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]

Since SSS is an incurable disease, and treatment entirely focuses on the management of individually presented conditions. It is recommended that genetic counseling must be given to the affected parents. [ncbi.nlm.nih.gov]

• 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]

• Dentist

  Pediatric dentists should concentrate on dental health education, improving dietary habits, and early oral evaluation to prevent dental diseases in SSS patients. [mdpi.com]

• Failure to Thrive

  SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive. [ncbi.nlm.nih.gov]

  Conclusions: SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive. Corresponding author: Salma A. [degruyter.com]

  Signs and symptoms SSS is a relatively severe disorder that causes seizures, growth failure, failure to thrive, and intellectual disabilities. [forgottendiseases.org]

  […] to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - High forehead - Hyperphosphtemia - Hypocalcemia - Hypoparathyroidy - Intellectual deficit / mental / psychomotor retardation / learning disability [csbg.cnb.csic.es]

• Oral Edema

  During the course of dental procedure, Dexamethasone was given to aid in reducing oral edema. The procedures were done in 130 minutes excluding induction and extubation. [hindawi.com]

• Calcinosis Cutis

  Sanjad-Sakati Syndrome with calcinosis cutis Medicine 2014 This issue describes the first case, to the knowledge, of Sanjad-Sakati syndrome with calcinosis cutis, a recently described genetic disease confined to children of Arab populations in the Middle-East [semanticscholar.org]

• Small Hand

  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]

  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. [apps.who.int]

  Small hands with short and thin digits. Fig. 2. Oral findings included small dental arches, increased over bite, plaque-induced gingivitis, and multiple carious and missing teeth. Fig. 3. Small and pointed tongue. Fig. 4. [karger.com]

  The syndrome has a wide variety of clinical features, including deep-set eyes, micrognathia, thin lips, small maxilla, severely decayed teeth, beaked noses, depressed nasal bridges, external ear anomalies, small hands and feet, short stature, and learning [alliedacademies.org]

• 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]

• Withdrawn

  Once his calcium was maintained, oral calcium was withdrawn. He had convulsions at the age of 3 months, 6 months and 4 years because of low calcium responded to IV calcium. Girl - 1 developed convulsions on the third day of life. [ncbi.nlm.nih.gov]

• Beaked Nose

  He has typical morphological features, namely; long narrow face, deep set -set small eyes, beaked nose, large floppy ears and micrognathia, failure to succeed and mild to moderate mental retardation. [radiopaedia.org]

  Alghamdi Medicine Children 2022 The reported orofacial manifestations of Sanjad–Sakati syndrome include beaked nose, depressed nasal bridge, enamel hypoplasia, hypodontia, low-set ears, posteriorly rotated ears, deep-set eyes, microcephaly, microdontia [semanticscholar.org]

  Facial features of SSS include low set ears, deep set eyes, thin lips, micrognathia, and a beaked nose [3]. [karger.com]

  nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. [orpha.net]

• Thin Lips

  Facial features of SSS include low set ears, deep set eyes, thin lips, micrognathia, and a beaked nose [3]. [karger.com]

  lips and micrognathia), and mild to moderate intellectual deficiency. [orpha.net]

  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]

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]

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]

Hence, it is the responsibility of all clinicians that whenever encountering patients suffering from SSS, they should conduct a detailed endocrine workup even if symptoms related to derangements of those organs are absent. [cureus.com]

• 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]

[…] general anesthesia and for the dental treatment of two cousins of the same child. [hindawi.com]

Levothyroxine was considered as a treatment for hypothyroidism in these individuals [39]. [mdpi.com]

Growth defects have shown resistance to treatment with GH therapy, as mentioned above. [ncbi.nlm.nih.gov]

A comprehensive treatment plan was formulated and discussed with the girl and her family. [karger.com]

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]

The second dental management stressed on steel crowns and dental extractions more than restorative procedures, that is, shifting toprocedures with more solid prognosis to minimize the child’s future dental needs. [hindawi.com]

Prognosis - Sakati syndrome Not supplied. Treatment - Sakati syndrome Not supplied. Resources - Sakati syndrome [checkorphan.org]

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]

The etiology of enamel hypoplasia: a unifying concept. J Pediatr 1981; 98(6):888–893. PubMed Article Google Scholar Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD.MIM. [link.springer.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]

Low parathyroid hormone levels, which lead to hypocalcemia, were also proposed as the etiology of enamel hypoplasia and enamel opacities [39]. [mdpi.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]

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]

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]

Pathophysiology Virtually undetectable levels of parathyroid hormone resulting in hypocalcemia associated with hypophosphatemia. Growth hormone and insulin-like growth factor levels were also found to be low in affected children. [accessanesthesiology.mhmedical.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]

The exact pathophysiology behind these hormonal imbalances and their correlations is yet to be found [2,5]. [ncbi.nlm.nih.gov]

The exact pathophysiology behind these hormonal imbalances and their correlations is yet to be found [2,5]. Pathophysiology SSS is caused by a mutation in the tubulin co-factor E (TBCE) gene, the locus for which is located in chromosome 1q42.3. [cureus.com]

Pediatric dentists should concentrate on dental health education, improving dietary habits, and early oral evaluation to prevent dental diseases in SSS patients. [mdpi.com]

The caries might be attributed to enamel hypoplasia, the use of sweetened medications over a long period, poor oral hygiene, and infrequent dental visits for preventive measures [5]. [karger.com]

The authors highlighted the need for routine DNA counseling for early diagnosis and prevention of associated comorbidities. 1.1.2. [hindawi.com]

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]