Literature DB >> 21597923

Type III Klippel-Feil syndrome: case report and review of associated craniofacial anomalies.

Venkatesh G Naikmasur1, Atul P Sattur, R N Kirty, Arpita Rai Thakur.   

Abstract

Klippel-Feil syndrome (KFS) is a complex syndrome of osseous and visceral anomalies that include the classical clinical triad of short neck, limitation of head and neck movements and low posterior hairline. It may also be associated with anomalies of the genitourinary, musculoskeletal, neurologic and cardiac systems. We report a case of type III KFS with associated rib anomalies such as cervical rib, fusion and bifid ribs, scoliosis and fused crossed renal ectopia. The aim of this paper was to summarize all craniofacial anomalies that occur in association with KFS, so that clinicians would be aware of them during diagnosis and treatment planning.

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Year:  2011        PMID: 21597923     DOI: 10.1007/s10266-011-0004-7

Source DB:  PubMed          Journal:  Odontology        ISSN: 1618-1247            Impact factor:   2.634


  25 in total

1.  Craniofacial characteristics of Klippel-Feil syndrome in an eight year old female.

Authors:  E Ozdiler; M O Akcam; M O Sayin
Journal:  J Clin Pediatr Dent       Date:  2000       Impact factor: 1.065

2.  Klippel-Feil syndrome with multiple cysts of the jawbones.

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3.  [Facial asymmetry, disturbances in the masticatory organ and maxillo-orthopedic management of Klippel-Feil syndrome in children].

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Review 4.  Klippel-Feil anomaly with sacral agenesis: an additional subtype, type IV.

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5.  Association of craniovertebral and upper cervical anomalies with dermoid and epidermoid cysts: report of four cases.

Authors:  P Sarat Chandra; Aditya Gupta; Nalin K Mishra; Veer Singh Mehta
Journal:  Neurosurgery       Date:  2005-05       Impact factor: 4.654

6.  Posterior fossa dermoid cysts in association with Klippel-Feil syndrome: report of three cases.

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Journal:  AJNR Am J Neuroradiol       Date:  2007-10-05       Impact factor: 3.825

7.  Craniofacial and extracranial malformations in the Klippel-Feil syndrome.

Authors:  C Helmi; S Pruzansky
Journal:  Cleft Palate J       Date:  1980-01

8.  Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3).

Authors:  R A Clarke; S Singh; H McKenzie; J H Kearsley; M Y Yip
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

9.  De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly.

Authors:  Y Fukushima; H Ohashi; K Wakui; H Nishimoto; M Sato; T Aihara
Journal:  Am J Med Genet       Date:  1995-07-03

10.  Klippel-Feil syndrome in children: clinical features and management.

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Journal:  Childs Nerv Syst       Date:  1985       Impact factor: 1.475

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  5 in total

Review 1.  Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review.

Authors:  Stjepan Čota; Iva Žagar; Valentina Delimar; Mislav Pap; Doroteja Perić; Porin Perić
Journal:  Rheumatol Int       Date:  2019-06-18       Impact factor: 2.631

2.  Multiple Major and Minor Anomalies Associated With Klippel-Feil Syndrome: A Case Report.

Authors:  Nada Vujasinovic Stupar; Slavica Pavlov-Dolijanovic; Nur Hatib; Bojan Banko; Milan Djukic; Natasa Nikolic Jakoba
Journal:  Arch Rheumatol       Date:  2015-11-03       Impact factor: 1.472

3.  Klippel Feil syndrome with crossed fused renal ectopia with pelviureteric junction obstruction: A rare association.

Authors:  Pratyush Chandra Madhur; V Shankar Raman; Santosh Dey
Journal:  Med J Armed Forces India       Date:  2019-07-12

4.  Association of Klippel-Feil syndrome, Dandy-Walker malformation, spina bifida: A case report.

Authors:  Alessio Pirino; Maria Alessandra Sotgiu; Erich Cosmi; Andrea Montella; Pasquale Bandiera
Journal:  Radiol Case Rep       Date:  2019-01-15

5.  Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Authors:  Thomas A Ravenscroft; Jennifer B Phillips; Elizabeth Fieg; Sameer S Bajikar; Judy Peirce; Jeremy Wegner; Alia A Luna; Eric J Fox; Yi-Lin Yan; Jill A Rosenfeld; Jonathan Zirin; Oguz Kanca; Paul J Benke; Eric S Cameron; Vincent Strehlow; Konrad Platzer; Rami Abou Jamra; Chiara Klöckner; Matthew Osmond; Thomas Licata; Samantha Rojas; David Dyment; Josephine S C Chong; Sharyn Lincoln; Joan M Stoler; John H Postlethwait; Michael F Wangler; Shinya Yamamoto; Joel Krier; Monte Westerfield; Hugo J Bellen
Journal:  Genet Med       Date:  2021-06-10       Impact factor: 8.822

  5 in total

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