Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?
Clin Dysmorphol
; 11(4): 231-5, 2002 Oct.
Article
in En
| MEDLINE
| ID: mdl-12401986
ABSTRACT
This paper presents a patient with the following malformations split hand and split foot on the left side, a hypoplastic fifth ray of the right hand and a hypoplastic first ray of the right foot with a small cleft between the first and second ray; eye abnormalities which consist of a complete iris coloboma of the left eye in an atypical position (cranio-temporal) and a coloboma of the choroid in the right eye; a glandular hypospadias and terato-zoospermia. Since split hand/split foot can be caused by mutations in the p63 gene, mutation analysis of this gene was performed. However, sequencing analysis did not reveal a mutation. This malformation complex may represent a new syndrome.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Foot Deformities, Congenital
/
Hand Deformities, Congenital
/
Coloboma
/
Iris
/
Hypospadias
/
Membrane Proteins
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
Clin Dysmorphol
Journal subject:
TERATOLOGIA
Year:
2002
Document type:
Article
Affiliation country:
Países Bajos