Syndactyly of Feet Associated with Cornelia de Lange Syndrome.
- Author:
Si Gyun ROH
1
;
Nae Ho LEE
;
Kyung Moo YANG
Author Information
1. Department of Plastic and Reconstructive Surgery, College of Medicine, Chonbuk National University, Jeonju, Korea. rohsg@hanmail.net
- Publication Type:Case Report
- Keywords:
Cornelia de Lange syndrome;
Syndactyly
- MeSH:
Apnea;
Contracture;
De Lange Syndrome*;
Elbow;
Eyebrows;
Failure to Thrive;
Fingers;
Foot*;
Hirsutism;
Intellectual Disability;
Lip;
Lower Extremity;
Microcephaly;
Nipples;
Nose;
Strabismus;
Syndactyly*;
Thumb;
Toes;
Umbilicus;
Wills
- From:Journal of the Korean Society of Plastic and Reconstructive Surgeons
2004;31(4):567-571
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Cornelia de Lange syndrome was first described by Brachmann in 1916 and later reported by Cornelia de Lange in 1933. It is a rare malformation and retardation syndrome of unknown causes, with characteristic abnormalities including microcephaly, short stature, heavy eyebrows, long eyelashs, strabismus, small nose with anteverted nares, long philtrum, micrognathia, hypoplastic nipples and umbilicus, flexion contracture of elbows, micromelia and hirsutism. Rare cases of possible autosomal-recessive and autosomal-dominant inheritance have been reported. Severe growth and mental retardation are common. Aspiration, apnea, bowel obstruction, and cardiac defects constitute significant dangers during infancy. Failure to thrive is the rule. Also they have common anomaly of upper & lower extremity, example of proximally placed thumbs, clinodactyly of the fifth finger and syndactyly of the second and third toes. We present a case of Cornelia de Lange syndrome, associated with syndactyly of the great toes and the second toes.
