Items tagged “syndromes”

16 results found
Case

Joubert syndrome

Joubert syndrome-...
 Diagnosis almost certain
Dr Hani Salam
Published 11 Apr 2010
68% complete
MRI
Case

Mermaid syndrome (sirenomelia)

 Diagnosis certain
Dr Hani Salam
Published 12 Apr 2010
85% complete
X-ray
Case

Crouzon syndrome

 Diagnosis almost certain
Dr Hani Salam
Published 19 May 2010
48% complete
CT
Article

Cleidocranial dysostosis

Cleidocranial dysostosis (CCD), also known as cleidocranial dysplasia, is a rare skeletal dysplasia with predominantly membranous bone involvement, which carries an autosomal dominant inheritance 4. Clinical presentation large head, with large fontanelles with delayed closure broad mandible ...
Case

Poland syndrome

 Diagnosis certain
Dr Alexandra Stanislavsky
Published 22 Aug 2010
64% complete
X-rayCT
Case

Goldenhar syndrome

Skull radiographs...
 Diagnosis probable
Dr Hani Salam
Published 20 Jun 2011
48% complete
X-rayCT
Article

Fibular hemimelia

Fibular hemimelia is a congenital lower limb anomaly characterised by partial or complete absence of the fibula and includes a spectrum ranging from mild fibular hypoplasia to complete fibular aplasia 1. Epidemiology Although rare in occurrence, it is the most common congenital absence of long...
Case

Acute phase of hemiconvulsion hemiplegia syndrome

 Diagnosis certain
Dr René Pfleger
Published 16 May 2014
95% complete
CTMRI
Article

Kabuki syndrome

Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan. Epidemiology Estimated incidence of 1:32,000 in Japan. Sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial. Pathology The cause for t...
Article

Zimmerman-Laband syndrome

Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities.  Pathology The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with high mutation rate and rare instances of germinal mosaic...
Article

Biotinidase deficiency

Biotinidase deficiency is a rare autosomal recessive condition in which the body is unable to break down the conjugated form of the vitamin B7 (biotin), resulting in low levels of available biotin. Epidemiology Profound deficiency (<10% of normal level) is estimated at ~1:100,000 of newborns. ...
Article

≤11 ribs (differential)

≤11 ribs is associated with a number of congenital abnormalities and skeletal dysplasias, including: Down syndrome campomelic dysplasia kyphomelic dysplasias asphyxiating thoracic dysplasia (Jeune syndrome) short rib polydactyly syndromes trisomy 18 chromosome 1q21.1 deletion syndrome​ a...
Article

Kyphomelic dysplasias

Kyphomelic dysplasias (also known as "pseudocampomelia") is thought to be a heterogeneous class of "bent bone" skeletal dysplasias.  Entities included in a differential for the class are: congenital bowing of the long bones cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type) ...
Article

Supernumerary ribs

Supernumerary ribs occur most commonly as a cervical rib or arising from the lumbar vertebra. In extremely rare situations, there can be sacral, coccygeal, intrathoracic, or aberrant lumbar ribs 3. Associations Turner syndrome cleidocranial dysplasia Aarskog syndrome trisomy 8 syndrome inc...
Article

Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is a disorder of ectodermal dysplasia with a wide variability in its manifestations. It is thought to have autosomal recessive inheritance. Clinical presentation There is a wide variability in the clinical presentation, but common features are: low birth weight hyp...
Article

Pinch off syndrome

Pinch-off syndrome is a spontaneous catheter fracture, which is seen as a complication of subclavian venous catheterisation. Epidemiology It is a known complication of central venous catheterisation with a much-reduced incidence in current practice and is generally considered to be rare. Radi...

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