An autopsy case of klippel-feil syndrome with cardiovascular anomalies and upper limb anomaly

Yoshifumi Kajiwara, Takayoshi Ikeda, Takeshi Matsuo, Keisuke Iwasaki, Isao Shimokawa, Yuji Ikeno, Yutaka Uehara

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

An autopsy case of Klippel-Feil syndrome with the classical triad of short neck, low posterior hairline and limitation of neck movement is reported. The patient died of cardiac failure resulting from complicated serious cardiovascular anomalies such as double outlet right ventricle, congenital mitral valve stenosis and coarctation of aorta. The condition was also complicated by radial ray deficiency of the left arm and asymmetry of the thyroid gland. Narrowing of the left subclavian and axillary arteries was detected by angiography while the patient was alive, a finding which may suggest the etiology of this congenital anomaly complex.

Original languageEnglish (US)
Pages (from-to)107-114
Number of pages8
JournalCongenital Anomalies
Volume31
Issue number3
DOIs
StatePublished - Sep 1991
Externally publishedYes

Fingerprint

Klippel-Feil Syndrome
Upper Extremity
Autopsy
Neck
Double Outlet Right Ventricle
Axillary Artery
Subclavian Artery
Aortic Coarctation
Mitral Valve Stenosis
Angiography
Thyroid Gland
Arm
Heart Failure

Keywords

  • Complications
  • Congenital heart anomaly
  • Klippel-Feil syndrome
  • Pathogenesis
  • Upper limb anomaly

ASJC Scopus subject areas

  • Developmental Biology
  • Pediatrics, Perinatology, and Child Health
  • Embryology

Cite this

An autopsy case of klippel-feil syndrome with cardiovascular anomalies and upper limb anomaly. / Kajiwara, Yoshifumi; Ikeda, Takayoshi; Matsuo, Takeshi; Iwasaki, Keisuke; Shimokawa, Isao; Ikeno, Yuji; Uehara, Yutaka.

In: Congenital Anomalies, Vol. 31, No. 3, 09.1991, p. 107-114.

Research output: Contribution to journalArticle

Kajiwara, Yoshifumi ; Ikeda, Takayoshi ; Matsuo, Takeshi ; Iwasaki, Keisuke ; Shimokawa, Isao ; Ikeno, Yuji ; Uehara, Yutaka. / An autopsy case of klippel-feil syndrome with cardiovascular anomalies and upper limb anomaly. In: Congenital Anomalies. 1991 ; Vol. 31, No. 3. pp. 107-114.
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