Search results for “achondroplasia”

68 results found
Article

Achondroplasia

Achondroplasia is a congenital genetic disorder resulting in rhizomelic dwarfism and is the most common skeletal dysplasia. It has numerous distinctive radiographic features.  Epidemiology It occurs due to sporadic mutations in the majority of cases but can be inherited as an autosomal dominan...
Article

Champagne glass pelvis (achondroplasia)

The champagne glass pelvis is a helpful sign in achondroplasia in which the iliac blades are flattened, giving rise to a pelvic inlet that resembles a champagne glass. The acetabular angles are flattened (horizontal) and the sacrosciatic notch is small.
Case

Achondroplasia

 Diagnosis certain
Dr Hani Salam
Published 01 Apr 2010
85% complete
X-ray
Case

Achondroplasia

 Diagnosis certain
A.Prof Frank Gaillard
Published 15 May 2009
92% complete
MRIX-ray
Case

Achondroplasia

 Diagnosis certain
A.Prof Frank Gaillard
Published 25 Mar 2009
86% complete
X-rayCT
Case

Achondroplasia

 Diagnosis almost certain
Dr Paul Simkin
Published 24 Jul 2013
54% complete
X-ray
Case

Achondroplasia

Pelvis: 
Narrow s...
 Diagnosis almost certain
Dr Brendon Friesen
Published 18 Apr 2014
60% complete
X-ray
Case

Achondroplasia

 Diagnosis almost certain
Dr Muhammad Essam
Published 08 May 2014
54% complete
X-ray
Case

Achondroplasia

 Diagnosis certain
Radswiki
Published 20 Oct 2010
47% complete
Case

Achondroplasia

 Diagnosis almost certain
A.Prof Frank Gaillard
Published 24 Sep 2008
66% complete
X-ray
Case

Achondroplasia

 Diagnosis certain
Dr Hani Salam
Published 16 Apr 2010
72% complete
X-ray
Case

Achondroplasia

 Diagnosis certain
A.Prof Frank Gaillard
Published 20 Dec 2009
74% complete
MRIX-ray
Case

Achondroplasia

 Diagnosis certain
A.Prof Frank Gaillard
Published 22 May 2008
80% complete
MRI
Case

Achondroplasia

 Diagnosis certain
Dr Jeremy Jones
Published 14 Jul 2014
57% complete
X-ray
Case

Achondroplasia

Metaphyseal flari...
 Diagnosis almost certain
Dr Mahmoud Yacout Alabd
Published 18 Oct 2015
77% complete
X-rayCT
Case

Achondroplasia

 Diagnosis almost certain
Raffi Ourfalian
Published 10 Aug 2016
79% complete
X-ray
Case

Achondroplasia

 Diagnosis almost certain
Professor Ali Hekmatnia
Published 30 Aug 2018
77% complete
MRI
Case

Achondroplasia

 Diagnosis certain
A.Prof Frank Gaillard
Published 28 Dec 2018
92% complete
MRI
Article

Achondroplastic base of skull abnormalities

Achondroplasia is the most common cause of short-limb dwarfism. (For a general discussion, see the generic article on achondroplasia.) As the skull base forms by endochondral ossification whereas the skull vault by membranous ossification, there is a marked discrepancy in relative size as the s...
Case

Achondroplasia (pelvis)

 Diagnosis certain
Dr Mohammad Taghi Niknejad
Published 30 Jun 2018
91% complete
X-ray
Case

Achondroplasia - fetal diagnosis

 Diagnosis certain
Dr Alexandra Stanislavsky
Published 18 Jul 2018
91% complete
Ultrasound
Article

SADDAN syndrome

SADDAN syndrome is an acronym for severe achondroplasia with developmental delay and acanthosis nigricans. It is an extremely rare condition, and as the name states, comprises a combination of skeletal, brain and cutaneous anomalies. Pathology Genetics The syndrome results from a mutation in ...
Article

Tombstone iliac wings

Tombstone iliac wings, also referred to as Mickey Mouse ears pelvis 1, are an imaging descriptor for the iliac wings of individuals with achondroplasia. These are seen to be small and squared and have been likened to the appearance of tombstones or the ears of Mickey Mouse.
Article

Tentorial angle

The tentorial angle is measured between a line connecting the nasion with the tuberculum sellae and the the angle of the straight sinus. Normally it should measure between 27° and 52°. Abnormalities of the posterior fossa / base of skull can alter this. For example this angle is elevated in ach...
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achondroplasia

1 case

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