SSS sanjad sakati syndrome, HRD hypoparathyrodisim retardation, dysmorphisim

2. He is Who shapes you in
the wombs as He
pleases. There is no god

4.  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

5.  Impression:
 Hypoparathyrodisim
 DDx:
 SSS (HRD).
 HDR .
 DiGeorge .
 Kenny–Caffey syndrome

6.  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

7.  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

8.  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

10.  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.

11.  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).

12.  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

13.  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.

14.  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.

21. 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

22.  Calcium ,Phosphorus, magnesium.
 PTH.
 TBCE gene study.
 Renal US.
 Bone age.
 Brain CT/MRI.

23.  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)

24.  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.

25.  Nephrocalcinosis.
 Nephrolithiasis.
 renal insufficiency.
 recurrent infections.

26. PROGNOSIS
 recurrent infections, is the cause of death in at
least 27%.
 rare cases have survived up to the age of 18
years.

29. Abduelela
h
almadhan
y
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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

30.  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

31.  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.

32.  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

33.  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).

34.  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

35.  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

36.  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.

37.  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.