O slideshow foi denunciado.
Utilizamos seu perfil e dados de atividades no LinkedIn para personalizar e exibir anúncios mais relevantes. Altere suas preferências de anúncios quando desejar.
He is Who shapes you in
the wombs as He
pleases. There is no god
 2 weeks old girl presented with generalized
tonic clonic convulsion.
 product of FT,NSVD, B.W:1.8kg .
 Father is deaf,...
 Impression:
 Hypoparathyrodisim
 DDx:
 SSS (HRD).
 HDR .
 DiGeorge .
 Kenny–Caffey syndrome
 first reported in 1988 .
 its inheritance and configuration was
confirmed in 1991.
 It has been reported almost exclus...
 The presenting complaint in most of the
patients was hypocalcaemic with generalised
convulsions, usually detected in the...
 found exclusively in people of Arabian origin.
 It is not uncommon in the Gulf area, especially
Saudi Arabia.
 the inc...
 autosomal recessive disorder.
 due to mutations in the tubulin-specific
chaperone E (TBCE) gene in chromosomal
area 1q4...
 One female child from Belgium not caused by
a TBCE mutation.
 Diagnosis is mainly clinical.
Winnie Courtens, Wim Wuyts,...
 IUGR.
 mental retardation.
 short stature.
 microcephaly.
 small hands and feet.
 beaked nose.
 depressed nasal br...
 Recurent chest infection is leading cause of
death.
 Also they have high tendency to ear infection.
 Functional Hyposp...
 blue sclera.
 high arched palate,
 Nystagmus.
 optic nerve coloboma.
 Cryptorchidism.
 medullary stenosis of
long b...
Kenny–Caffey
syndrome, type 2
Kenny–Caffey
syndrome, type 1
Sanjad–Sakati
syndromea
MacrocephalyMicrocephaly/macr
o
Microc...
 Calcium ,Phosphorus, magnesium.
 PTH.
 TBCE gene study.
 Renal US.
 Bone age.
 Brain CT/MRI.
 limited to palliative therapy.
 Calcium and one alpha calcidol or 1,25(OH)2
D3 (calcitriol).
 Low phosphorus formula.
...
 daily antibiotic prophylaxis against
pneumococcal infections + vaccination
 prevention could be achieved through
preimp...
 Nephrocalcinosis.
 Nephrolithiasis.
 renal insufficiency.
 recurrent infections.
PROGNOSIS
 recurrent infections, is the cause of death in at
least 27%.
 rare cases have survived up to the age of 18
ye...
Abduelela
h
almadhan
y
Alwaleed
Algoud
Adary
Alotibi
Bader
Alotibi
Meshal
Alotibi
Waad Aldajani
MMFMMFSEX
1y5m4y7y7m8y9m14...
 K.K. Naguib, S.A. Gouda, A. Elshafey, F.
Mohammed, L. Bastaki, A.S. Azab and S.A.
Alawadi. Sanjad–Sakati syndrome/Kenny–...
 Yaser El-Tal MD, Sameer Marji MD, JMCC,
Hussein Shawaqfeh MD, JMCC, Khalid Okour
MD, JMCC . SANJAD – SAKATI
SYNDROME: A ...
 Eli Hershkovitz, Reli Hershkovitz, Lora
Hertzug, Rafael Gorodischer, Moshe Mazor
and Ruti Parvari. Prenatal diagnosis of...
 Winnie Courtens, Wim Wuyts,Martin Poot,
Karoly Szuhai, Jan Wauters, Edwin Reyniers,
Marc Eleveld, George Diaz, Markus M....
 Ruti Parvari,a George A. Diaz ,b Eli
Hershkovitz . Parathyroid Development and
the Role of Tubulin Chaperone E. Horm Res...
 R J Richardson, J M W Kirk. Short stature,
mental retardation, and
hypoparathyroidism: a new syndrome.
Archives ofDiseas...
 Hershkovitz E, Rozin I, Limony Y.
Hypoparathyroidism, retardation, and
dysmorphism syndrome: impaired early
growth and i...
 Ahmed Farag Elhassanien,Hesham Abdel-
Aziz Alghaiaty. Neurological manifestations
in children with Sanjad–Sakati
syndrom...
Middle east syndrome, sanjad sakati syndrome
Middle east syndrome, sanjad sakati syndrome
Middle east syndrome, sanjad sakati syndrome
Middle east syndrome, sanjad sakati syndrome
Middle east syndrome, sanjad sakati syndrome
Middle east syndrome, sanjad sakati syndrome
Middle east syndrome, sanjad sakati syndrome
Middle east syndrome, sanjad sakati syndrome
Middle east syndrome, sanjad sakati syndrome
Middle east syndrome, sanjad sakati syndrome
Middle east syndrome, sanjad sakati syndrome
Middle east syndrome, sanjad sakati syndrome
Middle east syndrome, sanjad sakati syndrome
Próximos SlideShares
Carregando em…5
×

Middle east syndrome, sanjad sakati syndrome

6.426 visualizações

Publicada em

SSS sanjad sakati syndrome, HRD hypoparathyrodisim retardation, dysmorphisim

Publicada em: Saúde e medicina
  • I would HIGHLY recommend the bulimia recovery program. Shaye and the girls on the site are beyond amazing. Without even meeting anyone, I have felt kindness, love, and incredible support. For that reason alone it is worth it. But the guides, information, meal planning tools, binge tracker, blog, forums, and vidoes are more reasons to join. I truly think that if you struggle with an eating disorder this program will help you overcome it and change your life for the better. ◆◆◆ https://tinyurl.com/y88w4b6s
       Responder 
    Tem certeza que deseja  Sim  Não
    Insira sua mensagem aqui
  • Being part of the Bulimia Recovery Program (BRP) has been an integral part of my own success; I am proud to say I am at almost a month free of bingeing and purging! One of the most important elements of this program is access to Shaye’s tremendously helpful guide for bulimia recovery, in which she uses her own experiences and that of others to literally guide you through many aspects of the recovery process (such as learning structured eating—so important!). Seeing so many other wonderful people break their b/p cycles and engage in structured eating helped me to see that I could do it, too.  http://ishbv.com/bulimiarec/pdf
       Responder 
    Tem certeza que deseja  Sim  Não
    Insira sua mensagem aqui
  • Sex in your area is here: ❶❶❶ http://bit.ly/2F90ZZC ❶❶❶
       Responder 
    Tem certeza que deseja  Sim  Não
    Insira sua mensagem aqui
  • Dating for everyone is here: ❤❤❤ http://bit.ly/2F90ZZC ❤❤❤
       Responder 
    Tem certeza que deseja  Sim  Não
    Insira sua mensagem aqui
  • DOWNLOAD THAT BOOKS INTO AVAILABLE FORMAT (2019 Update) ......................................................................................................................... ......................................................................................................................... Download Full PDF EBOOK here { http://bit.ly/2m77EgH } ......................................................................................................................... Download Full EPUB Ebook here { http://bit.ly/2m77EgH } ......................................................................................................................... Download Full doc Ebook here { http://bit.ly/2m77EgH } ......................................................................................................................... Download PDF EBOOK here { http://bit.ly/2m77EgH } ......................................................................................................................... Download EPUB Ebook here { http://bit.ly/2m77EgH } ......................................................................................................................... Download doc Ebook here { http://bit.ly/2m77EgH } ......................................................................................................................... ......................................................................................................................... ................................................................................................................................... eBook is an electronic version of a traditional print book that can be read by using a personal computer or by using an eBook reader. (An eBook reader can be a software application for use on a computer such as Microsoft's free Reader application, or a book-sized computer that is used solely as a reading device such as Nuvomedia's Rocket eBook.) Users can purchase an eBook on diskette or CD, but the most popular method of getting an eBook is to purchase a downloadable file of the eBook (or other reading material) from a Web site (such as Barnes and Noble) to be read from the user's computer or reading device. Generally, an eBook can be downloaded in five minutes or less ......................................................................................................................... .............. Browse by Genre Available eBooks .............................................................................................................................. Art, Biography, Business, Chick Lit, Children's, Christian, Classics, Comics, Contemporary, Cookbooks, Manga, Memoir, Music, Mystery, Non Fiction, Paranormal, Philosophy, Poetry, Psychology, Religion, Romance, Science, Science Fiction, Self Help, Suspense, Spirituality, Sports, Thriller, Travel, Young Adult, Crime, Ebooks, Fantasy, Fiction, Graphic Novels, Historical Fiction, History, Horror, Humor And Comedy, ......................................................................................................................... ......................................................................................................................... .....BEST SELLER FOR EBOOK RECOMMEND............................................................. ......................................................................................................................... Blowout: Corrupted Democracy, Rogue State Russia, and the Richest, Most Destructive Industry on Earth,-- The Ride of a Lifetime: Lessons Learned from 15 Years as CEO of the Walt Disney Company,-- Call Sign Chaos: Learning to Lead,-- StrengthsFinder 2.0,-- Stillness Is the Key,-- She Said: Breaking the Sexual Harassment Story That Helped Ignite a Movement,-- Atomic Habits: An Easy & Proven Way to Build Good Habits & Break Bad Ones,-- Everything Is Figureoutable,-- What It Takes: Lessons in the Pursuit of Excellence,-- Rich Dad Poor Dad: What the Rich Teach Their Kids About Money That the Poor and Middle Class Do Not!,-- The Total Money Makeover: Classic Edition: A Proven Plan for Financial Fitness,-- Shut Up and Listen!: Hard Business Truths that Will Help You Succeed, ......................................................................................................................... .........................................................................................................................
       Responder 
    Tem certeza que deseja  Sim  Não
    Insira sua mensagem aqui

Middle east syndrome, sanjad sakati syndrome

  1. 1. He is Who shapes you in the wombs as He pleases. There is no god
  2. 2.  2 weeks old girl presented with generalized tonic clonic convulsion.  product of FT,NSVD, B.W:1.8kg .  Father is deaf, consangoius marriage.  On exam:  Wt and length : <3ed .  Dysmorphic . Deep seated eye.  CVS: S1+S2+ SM.  Lab: calcium 1.5 posphorus: 3.5 PTH: undetectable
  3. 3.  Impression:  Hypoparathyrodisim  DDx:  SSS (HRD).  HDR .  DiGeorge .  Kenny–Caffey syndrome
  4. 4.  first reported in 1988 .  its inheritance and configuration was confirmed in 1991.  It has been reported almost exclusively in the Middle Eastern population.  characterized by congenital hypoparathyroidism, retarded growth, mental retardation and a characteristic physiognomy . S A Sanjad, N A Sakati, Y K Abu-Osba, R Kaddoura, R D G Milner. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Archives ofDisease in Childhood 1991; 66: 193-196
  5. 5.  The presenting complaint in most of the patients was hypocalcaemic with generalised convulsions, usually detected in the first few days or weeks of life.  the age at diagnosis of ranged from 1st week of life to 12 years.  some authors consider it a variant of Kenny– Caffey syndrome type 1.  M=F J. Albaramki, K. Akl, A. Al- Muhtaseb, M. Al-Shboul, T. Mahmoud, M. El-Khateeb and H. Hamamy.Sanjad Sakati syndrome: a case series from Jordan : Eastern Mediterranean Health Journal, vol. Vol. 18 No. 5 • 2012
  6. 6.  found exclusively in people of Arabian origin.  It is not uncommon in the Gulf area, especially Saudi Arabia.  the incidence in Saudi Arabia varies from 1:40 000 to 1:100 000 live births.  In Kuwait the incidence is 7–8 per 100 000 live births.  The parents of most of the cases being consanguineous.K.K. Naguib, S.A. Gouda, A. Elshafey, F. Mohammed, L. Bastaki, A.S. Azab and S.A. Alawadi. Sanjad–Sakati syndrome/Kenny– Caffey syndrome type 1: a study of 21 cases in Kuwait .Eastern Mediterranean Health Journal, Vol. 15, No. 2, 2009
  7. 7.  autosomal recessive disorder.  due to mutations in the tubulin-specific chaperone E (TBCE) gene in chromosomal area 1q42–q43.  The gene TBCE encodes a protein that participates in beta-tubulin folding.  Tubulin is needed for many essential life processes, including cell division and proper organelle positioning in the cell. Ruti Parvari,a George A. Diaz ,b Eli Hershkovitz . Parathyroid Development and the Role of Tubulin Chaperone E. Horm Res 2007;67:12–21.
  8. 8.  One female child from Belgium not caused by a TBCE mutation.  Diagnosis is mainly clinical. Winnie Courtens, Wim Wuyts,Martin Poot, Karoly Szuhai, Jan Wauters, Edwin Reyniers, Marc Eleveld, George Diaz, Markus M. No¨then, and Ruti Parvari. Clinical Report Hypoparathyroidism -Retardation-Dysmorphism Syndrome in a Girl: A New Variant Not Caused by a TBCE Mutation—Clinical Report and Review: American Journal of Medical Genetics 140A:611–617 (2006).
  9. 9.  IUGR.  mental retardation.  short stature.  microcephaly.  small hands and feet.  beaked nose.  depressed nasal bridge.  external ear anomalies.  deep-set eyes.  Thin upper lip  long philtrum  micrognathia,  enamel hypoplasia  repeated infections.  persistent hypocalcaemia and hypoparathyroidism. Yaser El-Tal MD, Sameer Marji MD, JMCC, Hussein Shawaqfeh MD, JMCC, Khalid Okour MD, JMCC . SANJAD – SAKATI SYNDROME: A REPORT OF TWO CASES . JOURNAL OF THE ROYAL MEDICAL SERVICES Vol. 15 No. 3 December 2008
  10. 10.  Recurent chest infection is leading cause of death.  Also they have high tendency to ear infection.  Functional Hyposplenism And impaired polymorphonuclear cell functions could be the cause .  Reduced numbers of T-cell subsets were found. Hershkovitz E, Rozin I, Limony Y. Hypoparathyroidism, retardation, and dysmorphism syndrome: impaired early growth and increased susceptibility to severe infections due to hyposplenism and impaired polymorphonuclear cell functions. Pediatric research. 2007 Oct;62(4):505-9.
  11. 11.  blue sclera.  high arched palate,  Nystagmus.  optic nerve coloboma.  Cryptorchidism.  medullary stenosis of long bones.  intracranial calcifications  Cataract.  central hypoventilation  obstructive sleep  Partial Agenesis of Corpus Callosum Eli Hershkovitz, Reli Hershkovitz, Lora Hertzug, Rafael Gorodischer, Moshe Mazor and Ruti Parvari. Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD) syndrome Prenat Diagn 2000; 20: 475±477.
  12. 12. Kenny–Caffey syndrome, type 2 Kenny–Caffey syndrome, type 1 Sanjad–Sakati syndromea MacrocephalyMicrocephaly/macr o MicrocephalyCraniofacial Normal mentalityMental retardation/ normal mentality (mild to moderate Mental thickened cortex and , medullary stenosis osteosclerosis medullary stenosis of tubular bones; osteosclerosis Micropenis, cryptorchidism, other Transient hypocalcemia, transient hypophosphataemi a Hypocalcaemia low parathyroid hormone; low to low-normal magnesium Hypocalcaemia; low parathyroid hormone; hyperphosphatae mia lab
  13. 13.  Calcium ,Phosphorus, magnesium.  PTH.  TBCE gene study.  Renal US.  Bone age.  Brain CT/MRI.
  14. 14.  limited to palliative therapy.  Calcium and one alpha calcidol or 1,25(OH)2 D3 (calcitriol).  Low phosphorus formula.  treating intercurrent infections.  Attempts to use growth hormone in some of the cases proved unsuccessful. Khalil Al Tawil,* Adnan Shataiwi, Angham Mutair, Wafa Eyaid, and Saif Al Saif. Hypoparathyroidism–Retardation–Dysmorphism (HRD) Syndrome in Triplets : American Journal of Medical Genetics 135A:200–201 (2005)
  15. 15.  daily antibiotic prophylaxis against pneumococcal infections + vaccination  prevention could be achieved through preimplantation genetic diagnosis (PGD) and carrier detection.  Amniocentesis also can be done. Ali Hellani*, Aida Aqueel, Kamal Jaroudi, Pinar Ozand and Serdar Coskun. Pregnancy after preimplantation genetic diagnosis for Sanjad–Sakati syndrome : PRENATAL DIAGNOSIS 2004; 24: 302– 306.
  16. 16.  Nephrocalcinosis.  Nephrolithiasis.  renal insufficiency.  recurrent infections.
  17. 17. PROGNOSIS  recurrent infections, is the cause of death in at least 27%.  rare cases have survived up to the age of 18 years.
  18. 18. Abduelela h almadhan y Alwaleed Algoud Adary Alotibi Bader Alotibi Meshal Alotibi Waad Aldajani MMFMMFSEX 1y5m4y7y7m8y9m14 year19 yearAGE 1-alpha , Hydrochlor othiazide. 1-alpha, Mgso4, ca, Caco3,Hy drochlorot hiazide. 1- alpha, ca 1-alpha , CaCO3, Hydrochl orothiazi de. 1-alpha, Mgso4, Hydrochl orothiazi de. 1-alpha, Mgso4, Hydrochlorothia zide, thyroxine, TREATMEN T YYNOYYYnephrocalcino sis YYNOYYYhypercacuria Y????????YY????TBCE mutation SngleundescenRecurrundescetrachyostHypothyroidism,OTHER
  19. 19.  K.K. Naguib, S.A. Gouda, A. Elshafey, F. Mohammed, L. Bastaki, A.S. Azab and S.A. Alawadi. Sanjad–Sakati syndrome/Kenny– Caffey syndrome type 1: a study of 21 cases in Kuwait :Eastern Mediterranean Health Journal, Vol. 15, No. 2, 2009  J. Albaramki, K. Akl, A. Al- Muhtaseb, M. Al- Shboul, T. Mahmoud, M. El-Khateeb and H. Hamamy.Sanjad Sakati syndrome: a case series from Jordan : Eastern Mediterranean Health Journal, vol. Vol. 18 No. 5 • 2012
  20. 20.  Yaser El-Tal MD, Sameer Marji MD, JMCC, Hussein Shawaqfeh MD, JMCC, Khalid Okour MD, JMCC . SANJAD – SAKATI SYNDROME: A REPORT OF TWO CASES . JOURNAL OF THE ROYAL MEDICAL SERVICES Vol. 15 No. 3 December 2008  Ali Hellani, Aida Aqueel, Kamal Jaroudi, Pinar Ozand and Serdar Coskun. Pregnancy after preimplantation genetic diagnosis for Sanjad–Sakati syndrome : PRENATAL DIAGNOSIS 2004; 24: 302–306.
  21. 21.  Eli Hershkovitz, Reli Hershkovitz, Lora Hertzug, Rafael Gorodischer, Moshe Mazor and Ruti Parvari. Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD) syndrome Prenat Diagn 2000; 20: 475±477.  Khalil Al Tawil,* Adnan Shataiwi, Angham Mutair, Wafa Eyaid, and Saif Al Saif. Hypoparathyroidism–Retardation– Dysmorphism (HRD) Syndrome in Triplets : American Journal of Medical Genetics
  22. 22.  Winnie Courtens, Wim Wuyts,Martin Poot, Karoly Szuhai, Jan Wauters, Edwin Reyniers, Marc Eleveld, George Diaz, Markus M. No¨then, and Ruti Parvari. Clinical Report Hypoparathyroidism-Retardation- Dysmorphism Syndrome in a Girl: A New Variant Not Caused by a TBCE Mutation— Clinical Report and Review: American Journal of Medical Genetics 140A:611–617 (2006).
  23. 23.  Ruti Parvari,a George A. Diaz ,b Eli Hershkovitz . Parathyroid Development and the Role of Tubulin Chaperone E. Horm Res 2007;67:12–21.  S A Sanjad, N A Sakati, Y K Abu-Osba, R Kaddoura, R D G Milner. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Archives ofDisease in Childhood 1991; 66: 193-196
  24. 24.  R J Richardson, J M W Kirk. Short stature, mental retardation, and hypoparathyroidism: a new syndrome. Archives ofDisease in Childhood 1990; 65: 1113-1117.  Bushra Rafique and Saif Al-Yaarubi. Sanjad- Sakati Syndrome in Omani children. doi:10.5001/omj.2010.63.  Naif ALGhasab, A. Bruce Janati, Aslam KhanPartial Agenesis of Corpus Callosum in Sanjad-Sakati Syndrome (p-ACC). Can J
  25. 25.  Hershkovitz E, Rozin I, Limony Y. Hypoparathyroidism, retardation, and dysmorphism syndrome: impaired early growth and increased susceptibility to severe infections due to hyposplenism and impaired polymorphonuclear cell functions. Pediatric research. 2007 Oct;62(4):505-9.  kalenahlli J, Halasahalli C. Hypoparathyroidism-retardation- dysmorphism syndrome. Indian J Hum Genet. 2013 Jul-Sep; 19(3): 363–365.
  26. 26.  Ahmed Farag Elhassanien,Hesham Abdel- Aziz Alghaiaty. Neurological manifestations in children with Sanjad–Sakati syndrome,International Journal of General Medicine may 2013.  Wiam A. Arabi, Areej A. Basheer, Mohamed A. Abdullah .Sanjad-Sakati Syndrome in Sudanese children SUDANESE JOURNAL OF PAEDIATRICS Vol. 11, No. 1. 2011.

×