Literature DB >> 24384797

Cayler cardiofacial syndrome with situs inversus totalis.

Birendra Rai1, Debkrishna Mallick, Rajoo Thapa, Biswajit Biswas.   

Abstract

Cayler cardiofacial syndrome is characterised by congenital unilateral hypoplasia of the depressor anguli oris muscle (DAOM) in association with congenital cardiac defects. Hypoplasia of this muscle causes inability to move one corner of the mouth downward and outward while crying or grimacing, giving rise to an 'asymmetric crying face' appearance. A variety of congenital cardiac defects have been described. Occasionally, other organ system anomalies may be additionally present. We present an instance of right-sided hypoplasia of the DAOM in a male newborn, which additionally had dextrocardia as a component of situs inversus totalis. To our knowledge, situs inversus totalis has not been previously documented as a part of this syndrome. Additionally, we reiterate that paediatricians need to be aware that this minor facial anomaly may be associated with severe internal organ system anomalies, with cardiac being most common.

Entities:  

Mesh:

Year:  2014        PMID: 24384797     DOI: 10.1007/s00431-013-2256-4

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  10 in total

1.  Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case.

Authors:  E V Bawle; J Conard; D L Van Dyke; P Czarnecki; D A Driscoll
Journal:  Am J Med Genet       Date:  1998-10-12

2.  Three new patients with congenital unilateral facial nerve palsy due to chromosome 22q11 deletion.

Authors:  J E Puñal; M F Siebert; F B Angueira; A V Lorenzo; M Castro-Gago
Journal:  J Child Neurol       Date:  2001-06       Impact factor: 1.987

3.  Congenital hypoplasia of depressor anguli oris muscle. A genetically determined condition?

Authors:  C Papadatos; D Alexiou; D Nicolopoulos; H Mikropoulos; E Hadzigeorgiou
Journal:  Arch Dis Child       Date:  1974-12       Impact factor: 3.791

4.  Asymmetric crying facies and congenital anomalies.

Authors:  M Perlman; S H Reisner
Journal:  Arch Dis Child       Date:  1973-08       Impact factor: 3.791

5.  Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association.

Authors:  G G Cayler
Journal:  Arch Dis Child       Date:  1969-02       Impact factor: 3.791

6.  Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle: a study of 50 patients.

Authors:  D S Lin; F Y Huang; S P Lin; M R Chen; H A Kao; H Y Hung; C H Hsu
Journal:  Am J Med Genet       Date:  1997-08-08

7.  Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype.

Authors:  A Giannotti; M C Digilio; B Marino; R Mingarelli; B Dallapiccola
Journal:  Am J Med Genet       Date:  1994-11-15

Review 8.  Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature.

Authors:  E Lahat; E Heyman; A Barkay; M Goldberg
Journal:  J Child Neurol       Date:  2000-12       Impact factor: 1.987

9.  Congenital asymmetrical crying facies.

Authors:  S Singhi; P Singhi; K B Lall
Journal:  Clin Pediatr (Phila)       Date:  1980-10       Impact factor: 1.168

10.  Hypoplasia or absence of the depressor anguli oris muscle and congenital abnormalities, with special reference to the cardiofacial syndrome.

Authors:  S E Levin; N H Silverman; S Milner
Journal:  S Afr Med J       Date:  1982-02-13
  10 in total
  2 in total

1.  Cayler Cardio-Facial Syndrome: An Uncommon Condition in Newborns.

Authors:  Sunil Jayaram Pawar; Deepak Kumar Sharma; Sela Srilakshmi; Suguna Reddy Chejeti; Aakash Pandita
Journal:  Iran J Pediatr       Date:  2015-04-18       Impact factor: 0.364

2.  VACTER syndrome with situs inversus totalis: Case report and a new syndrome.

Authors:  Wei Wu; Zhibao Lv; Weijue Xu; Jiangbing Liu; Wei Jia
Journal:  Medicine (Baltimore)       Date:  2017-06       Impact factor: 1.889

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.