Yunis-varon syndrome: the first report of two Iranian cases
Acta Medica Iranica. 2014; 52 (1): 85-87
in English
| IMEMR
| ID: emr-167710
ABSTRACT
The Yunis-Varon syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles [cleidocranial dysplasia], absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, growth retardation and poor outcome. The molecular genetic basis is unknown. Here, we report an 8 months old girl with Yunis-Varon syndrome, born to a consanguineously married, with normal parents. She had micrognathia, wide fontanels, prominent eyes, poor sucking, congenital heart diseases, asymmetric face, ambiguous genitalia, reduction anomaly in right hand including thumb, and hypo plastic distal phalanges of 3th fingers, and hypo plastic clavicles. She has glaucoma and lenses opacity. There is another similar case in her family. Karyotype is normal. She is the first Iranian known case of Yunis-Varon syndrome
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Thumb
/
Ectodermal Dysplasia
/
Hallux
/
Limb Deformities, Congenital
/
Heart Defects, Congenital
/
Micrognathism
Type of study:
Case report
Limits:
Female
/
Humans
Language:
English
Journal:
Acta Med. Iran.
Year:
2014
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