NEW CHROMOSOMAL AND MALFORMATION SYNDROMES

M. Saadat, M. Tafozoli, M. Ziai

Research output: Contribution to journalArticle

Abstract

A female infant is presented; weight was 2.5 kg, length 48 cm and head circumference 36 cm. Her head was normocephalic, but mild asymmetry of the face was noted. The right iris was blue and the left one was brown. Pupils were equal and reacted to light. Fundi were normal. The ears were low set and there was a small preauricular skin tag on the left side. A midline cleft palate was present. Mandible was somewhat small. The neck was short and webbing was prominent. Chest x ray film of the spine demonstrated spina bifida, hypoplasia of the vertebras of the cervical and upper thoracic regions, besides Sprengle deformity on the right with the omovertebral bar. This case presents an unusual combination of anomalies previously not reported all in one patient.

Original languageEnglish (US)
Pages (from-to)339
Number of pages1
JournalBirth Defects: Original Article Series
Volume11
Issue number5
Publication statusPublished - 1975
Externally publishedYes

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ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

Cite this

Saadat, M., Tafozoli, M., & Ziai, M. (1975). NEW CHROMOSOMAL AND MALFORMATION SYNDROMES. Birth Defects: Original Article Series, 11(5), 339.