Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association

Kaissi, Ali Al; Chehida, Farid Ben; Ghachem, Maher Ben; Grill, Franz; Klaushofer, Klaus

doi:10.1002/ajmg.a.32660

Cited by 11 publications

(8 citation statements)

References 15 publications

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“…This case report describes a child with MURCS association who presented from an outside hospital for emergency craniocervical decompression secondary to critical stenosis of the foramen magnum. MURCS association usually does not affect life expectancy [1,2], however there are two reported findings on autopsy of an occipital encephalocele in two fetuses [3]. Foramen magnum stenosis is usually associated to achondroplasia.…”

Section: Discussionmentioning

confidence: 96%

Emergent Cervical Decompression in a Child with MURCS Association

Abdallah¹

2016

Glob J Anesth

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Section: Discussionmentioning

confidence: 96%

Emergent Cervical Decompression in a Child with MURCS Association

Abdallah¹

2016

Glob J Anesth

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“…Its incidence is 1 case per 50,000 women [9]. Some MURCS association cases belong to the malformation spectrum of DiGeorge phenotype [10, 11]. Hofstetter et al [12] diagnosed a 16-year-old patient showing the cardinal features of MURCS association accompanied by a persistent left superior vena cava and atrial septal defect, orofacial clefting, and mild reduction deformities of the left hand.…”

Section: Discussionmentioning

confidence: 99%

“…Al Kaissi et al [11] reported a 17-year-old girl with MURCS association and ovarian dysplasia. Tan et al [18] described a patient with bicornuate uterus, right ovarian agenesis, unilateral multicystic dysplastic kidneys, and other birth defects not typically associated with MURCS.…”

Section: Discussionmentioning

confidence: 99%

MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis

Dąbkowska-Huć

Skałba

Pyrkosz

2013

Case Reports in Genetics

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A combination of the congenital abnormalities, Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia, is defined as the MURCS association. Various genetic defects have been described in the MURCS association so far, yet the unambiguous molecular basis of these disorders has not been established. We report the case of an 18-year-old woman who presented with primary amenorrhea, right kidney, Arnold-Chiari malformation, and Klippel-Feil syndrome. In addition, the patient showed the following unusual features: right ovarian and Skenes gland agenesis, cubitus valgus with hyperextension and decreased range of motion at elbows, and facial changes. Moreover, the performed DNA analysis showed interstitial duplication in chromosome 5 (5q35.1). In the duplicated region, there are genes whose function is not well known. It is thought that they have an influence on the early stages of development and their joining in the later period can lead to neoplastic disorders, especially leukemias.

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“…Al Kaissi et al [23] described a 17-year-old girl who presented with MURCS association associated with significant thoracic vertebral hyperostosis closely resembling senile ankylosing vertebral hyperostosis (Forestier disease).…”

Section: Discussionmentioning

confidence: 99%

The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis

et al. 2011

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The aim of the article is fourfold; firstly, to detect the aetiology of torticollis in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome; secondly, spine pathology in Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome varies considerably from one patient to another and there are remarkable differences in severity and localization; thirdly, mismanagement of congenital spine pathology is a frequent cause of morbid/fatal outcome; and fourthly, the application of prophylactic surgical treatment to balance the growth of the spine at an early stage is mandatory. Reformatted CT scans helped in exploring the craniocervical and the entire spine in these patients. The reason behind torticollis ranged between aplasia of the posterior arch of the atlas, assimilation of the atlas and extensive fusion of the lower cervical vertebrae (bilateral failure of segmentation) in four patients; in one patient, in addition to the hypoplastic posterior arch of the atlas, we observed ossification of the anterior and the posterior longitudinal spinal ligaments giving rise to a block vertebrae-like suggestive of early senile ankylosing vertebral hyperostosis (Forestier disease). Scoliosis at different spine levels was attributable to variable spine defects. Pelvic ultrasound showed the classical renal agenesis in four patients; whereas in one patient, the MRI showed pelvic cake kidney (renal fused ectopia) associated with ovarian, uterine and vaginal abnormalities. This is the first exploratory study on the craniocervical and the entire spine in a group of patients with MURCS association.

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Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association

Cited by 11 publications

References 15 publications

Emergent Cervical Decompression in a Child with MURCS Association

Emergent Cervical Decompression in a Child with MURCS Association

MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis

The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis

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