Items tagged “syndromes”
15 results found
Diagnosis almost certain
Published 11 Apr 2010
Mermaid syndrome (sirenomelia)
Published 12 Apr 2010
Diagnosis almost certain
Published 19 May 2010
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 ...
Published 22 Aug 2010
Published 20 Jun 2011
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...
Acute phase of hemiconvulsion hemiplegia syndrome
Published 16 May 2014
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...
Zimmerman-Laband syndrome is a rare congenital syndrome, characterised 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...
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. ...
≤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...
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) ...
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...
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...