Femoral hypoplasia--unusual facies syndrome and chromosome X trisomy.

Abstract

A black American infant presented with typical findings of femoral hypoplasia--unusual facies syndrome, chromosome X trisomy in cultured lymphocytes, and a family history of mirognathia among first- and second-degree maternal relatives. It is postulated that micrognathia may lie at one end of the multigenic phenotypic spectrum which at its opposite end includes the above syndrome. The presence of X trisomy in this infant suggests that concordance between this chromosomal anomaly and variable points of the syndrome's phenotypic spectrum should be sought in other families.

• Authors: A Lomo, V Headings
• Journal: Southern medical journal (South Med J) Vol. 73 Issue 12 Pg. 1669-70 (Dec 1980) ISSN: 0038-4348 [Print] United States
• PMID: 7444565 (Publication Type: Case Reports, Journal Article)

Topics

• Female
• Femur (abnormalities)
• Humans
• Infant, Newborn
• Pierre Robin Syndrome (genetics)
• Sex Chromosome Aberrations
• Trisomy
• X Chromosome