Roberts-SC phocomelia syndrome.
Indian J Pediatr
;
2001 Jun; 68(6): 557-9
Article
in English
| IMSEAR
| ID: sea-78427
ABSTRACT
A severely growth retarded baby was born at 38 weeks gestation. He had multiple craniofacial anomalies, microbrachycephaly, phocomelia in the upper limbs and renal cysts visible on ultrasound. He died of recurrent apneas. The autopsy showed left sided multicystic dysplastic kidney and absence of one testis. Cytogenetic studies did not reveal any abnormality. The phenotypic features match those described in the Roberts-SC phocomelia syndrome. A literature review revealed that 50% of these patients have chromosomal defects and antenatal detection is possible on ultrasound and by chromosome analysis of the amniocytes.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Abnormalities, Multiple
/
Female
/
Humans
/
Male
/
Infant, Newborn
/
Pregnancy
/
Chromosome Aberrations
/
Chromosome Disorders
/
Ectromelia
/
Fetal Growth Retardation
Language:
English
Journal:
Indian J Pediatr
Year:
2001
Type:
Article
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