Anemia is present in 30% ... [accessanesthesiology.mhmedical.com]

Other traits with variable presentation in the syndrome are hypoplasic nails and neonatal liver disease. The presence of microorchidism has also been reported. [eurorad.org]

Di-George syndrome may present with hypoparathyrodism, growth retardation and abnormal facial features. [ncbi.nlm.nih.gov]

We present the first case of craniosynostosis in the setting of KCS2 and provide a comprehensive analysis of the associated craniofacial findings to date. [typeset.io]

Cited by Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2. [pubmed.ncbi.nlm.nih.gov]

• Weight Gain

  No weight gain was observed, despite proper intake of food (suction + maternity supplement). At the age of 6 months the child was readmitted and hospitalized due to cyanosis and apnea. On his admission the infant’s weight 3850g. [lupinepublishers.com]

• Cyanosis

  At the age of 6 months the child was readmitted and hospitalized due to cyanosis and apnea. On his admission the infant’s weight 3850g. Laboratory tests showed calcium levels 5.5g%, with phosphorus levels 9.64mg% and magnesium 1.6mg%. [lupinepublishers.com]

• Jaundice

  She was the sixth-born child to consanguineous parents who had their first girl child died 24 days after birth following a story of jaundice, whereas the other siblings were normal. [ncbi.nlm.nih.gov]

• Otalgia

  Camurati-Englemann disease is characterized by symmetrical hyperostosis of the long bones and the skull base, often with progressive audiological signs such as progressive deafness and otalgia, myopathies and neurological disturbances.6 In Hardcastle [eurorad.org]

• Photosensitivity

  If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA [mendelian.co]

• Sparse Eyebrows

  The changes in the eyes include microphthalmia, hyperopia, pseudopapilledema, vascular tortuosity, macular clouding, corneal and retinal calcifications and sparse eyebrows and eyelashes. [eurorad.org]

• Alopecia

  The clinical examination described harmonic dwarfism (height of 120 cm with a weight of 31 kg); a characteristic facies with large forehead and alopecia areas, triangular face, asymmetric ocular bulbs and nanophtalmic eyes, asymmetric jaw with dentition [eurorad.org]

• Large Anterior Fontanels

  Additionally, individuals also have an abnormally large head circumference (macrocephaly) with a prominent forehead due to an abnormally large anterior fontanelle that closes late. [en.wikipedia.org]

• Global Developmental Delay

  Genes related to Kenny-caffey Syndrome, Type 2; Kcs2 FAM111A Clinical Features Top most frequent phenotypes and symptoms related to Kenny-caffey Syndrome, Type 2; Kcs2 Seizures Global developmental delay Short stature Pica Hypertelorism Growth delay Abnormal [mendelian.co]

These may enable better targeting of GH treatment in children with short stature. [springermedizin.de]

Since serum Vitamin D levels were very low, implant supported prosthetic rehabilitations were excluded from the treatment plan.[6] After discussing advantages and the disadvantages of various treatment options with the patient, following final treatment [j-ips.org]

Blood tests can detect episodes of low levels of calcium in the blood (hypocalcemia).[11][1] Management or Treatment[edit] Treatment may be required to control hypocalcemia and to correct the ocular refraction anomalies.[1] Common methods of controlling [en.wikipedia.org]

Accordingly at the age of 6, the patient was qualified for treatment with growth hormone. [termedia.pl]

Diagnosis and Prognosis: This is an extremely rare condition and it is unlikely that the diagnosis can be made without doing blood work to detect the levels of calcium and phosphorous. [disorders.eyes.arizona.edu]

Prognosis may be variable. The primary outcome of Kenny-Caffey syndrome is short stature. Mental abilities are rarely affected. Mortality of 33% has been reported, because of psychomotor delay and intercurrent infections. [eurorad.org]

Since the deciduous teeth and periodontally week teeth had poor prognosis and could interfere with the final outcome, extraction of all retained deciduous teeth and following permanent teeth – 11, 21, 22, 23, 41, and 46 were planned. [j-ips.org]

At this stage prognosis of KCS especially with severe respiratory and gastrointestinal system involvement, was discussed with the family and the progressive life limiting course nature was explained. [qims.amegroups.com]

An increased understanding of the genetic etiology and improved genetic testing has provided an opportunity to expand the molecular diagnosis of hypoparathyroidism [2]. [springermedizin.de]

GH therapy in patients with rare genetic conditions may help guide clinical decisions regarding the use and doses of GH in these conditions. ...read moreread less Abstract: Hypoparathyroidism in children is a heterogeneous group with diverse genetic etiologies [typeset.io]

[edit] Because there have only been 60 reported cases of Kenny-Caffey Syndrome in medical literature, there are not enough cases to make the generalizations required to develop an epidemiological understanding of this disease. [en.wikipedia.org]

Pathophysiology The most striking biochemical finding is hypocalcemia, which is related to hypoparathyroidism in 46% of cases. The hypocalcemia is frequently associated with seizures or episodes of tetany. [accessanesthesiology.mhmedical.com]

In conclusion, early recognition of children KCS1 will lead to proper treatment of patients and prevent associated co morbidities. REFERENCES 1. [journals.lww.com]

[…] in literatures, no such complications were noted in the presented case until completion of 1-year follow-up due to meticulous care of the denture and oral hygiene measures practiced by the patient.[10] The use of 1.23% APF gel also contributed to the prevention [j-ips.org]

Early respiratory specialist involvement in the multidisciplinary treatment of these patients could prevent associated co morbidities and improve their quality of life and potentially prolong survival. [qims.amegroups.com]