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Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report.

Abstract Craniosynostosis is a disorder characterized by premature fusion of cranial sutures with subsequent development of abnormal craniofacial contour associated with variable skeletal and extra-skeletal abnormalities. In this family syndromic type of craniosynostosis was recognized and the etiology behind diverse forms of deformities have been diagnosed.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 28328806
OWN - NLM
STAT- MEDLINE
DA  - 20170322
DCOM- 20170410
LR  - 20170410
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 12
DP  - 2017 Mar
TI  - Craniosynostosis, Scheuermann's disease, and intellectual disability resembling
      Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case
      report.
PG  - e6199
LID - 10.1097/MD.0000000000006199 [doi]
AB  - RATIONALE: Craniosynostosis is a disorder characterized by premature fusion of
      cranial sutures with subsequent development of abnormal craniofacial contour
      associated with variable skeletal and extra-skeletal abnormalities. In this
      family syndromic type of craniosynostosis was recognized and the etiology behind 
      diverse forms of deformities have been diagnosed. PATIENT CONCERNS: The negative 
      impact of the disorder on the child and his family is enormous. Particularly when
      the diagnosis is late and little can be done. Though counselling the family
      through discussing the whole picture of the disorder might lessens their concern.
      DIAGNOSES: Diagnosis is the corner stone of management. In this paper we aimed to
      sensitize pediatricians, physicians, and orthopedic surgeons concerning the
      necessity to recognize syndromic associations early on. INTERVENTIONS: Patients
      with syndromic craniosynostosis are usually associated with a complexity of
      malformation complex. Craniofacial surgery can be of remarkable help if the
      diagnosis is made early. It requires a series of corrections to avoid
      intellectual disability and other neurological deficits.The timing of
      interventions is strongly correlated on the timing of diagnosis. OUTCOMES: The
      earliest the diagnoses, the much better the outcomes are. And consequently avert 
      the psychological and the financial cost on the patient and his family. LESSONS: 
      The golden principle of medicine should prevail in all medical disciplines, which
      states: The more you see, the more you know and conversely the more you know is
      the more you see.
FAU - Al Kaissi, Ali
AU  - Al Kaissi A
AD  - aLudwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA
      Trauma Centre Meidling, First Medical Department, Hanusch Hospital bOrthopedic
      Hospital of Speising, Pediatric Department, Vienna, Austria cDepartment of
      Neonatology, Charles Nicolle Hospital, Tunisia dDepartment of Pediatric
      Orthopedic Surgery, Children Hospital of Tunis, Tunisia. eInstitute of Medical
      Chemistry, Medical University of Vienna, Austria.
FAU - Marrakchi, Zahra
AU  - Marrakchi Z
FAU - Nassib, Nabil M
AU  - Nassib NM
FAU - Hofstaetter, Jochen
AU  - Hofstaetter J
FAU - Grill, Franz
AU  - Grill F
FAU - Ganger, Rudolf
AU  - Ganger R
FAU - Kircher, Susanne Gerit
AU  - Kircher SG
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - Shprintzen Golberg craniosynostosis
SB  - AIM
SB  - IM
MH  - Adult
MH  - Arachnodactyly/diagnosis/physiopathology
MH  - Child
MH  - Craniosynostoses/*diagnosis/*physiopathology
MH  - Diagnosis, Differential
MH  - Exophthalmos
MH  - Female
MH  - Humans
MH  - Intellectual Disability/*physiopathology
MH  - Male
MH  - Marfan Syndrome/diagnosis/physiopathology
MH  - Scheuermann Disease/*diagnosis/*physiopathology
MH  - Syndrome
PMC - PMC5371443
EDAT- 2017/03/23 06:00
MHDA- 2017/04/11 06:00
CRDT- 2017/03/23 06:00
AID - 10.1097/MD.0000000000006199 [doi]
AID - 00005792-201703240-00009 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Mar;96(12):e6199. doi: 10.1097/MD.0000000000006199.

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