Roberts-SC phocomelia syndrome

Akhil Maheshwari, Praveen Kumar, Sourabh Dutta, Anil Narang

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)557-559
Number of pages3
JournalIndian journal of pediatrics
Volume68
Issue number6
DOIs
StatePublished - Jun 2001
Externally publishedYes

Keywords

  • Microbrachycephaly
  • Phocomelia
  • Syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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