Femoral hypoplasia - unusual facies syndrome

S. Gleiser, D. D. Weaver, M. Escobedo, G. Nichols

Research output: Contribution to journalArticle

Abstract

A distinctive pattern of malformations including femoral hypoplasia and an unusual facies has recently been described in 7 children. We wish to report an 8th infant with this syndrome who in addition has Sprengel deformity and polysyndactyly. A white female (born 9/76) was the 3,200 gm product of a term pregnancy and normal delivery for a 34-year old diabetic mother and a 51 year old father. Her length was 36 cm. The pregnancy was complicated by urinary tract infection and hypertension. Diazepam, ampicillin, cephalexin, aspirin, and acetaminophen were used during the 2nd and 3rd trimesters. The infant has upslanting palpebral fissures, short nose with a relatively long philtrum, micrognathia with a cleft palate, hypoplasia of the alae nasi, thin upper lip, port wine stain of the nose, right superior eyelid and mid left forehead, clubfoot deformities, clinodactyly of the 2nd right toe and polysyndactyly of the 2nd left toe with partial duplication of the 3rd left toe. Radiographs revealed an absent left and markedly hypoplastic right femur, a left Sprengel deformity. Roentgenographic examination revealed 5 metatarsals and 6 proximal phalanges with the 2nd being hypoplastic. Her development has been normal except for slow gross motor development. The etiology of the femoral hypoplasia unusual facies syndrome is still unknown. This patient represents the second instance where maternal diabetes has been found. It is interesting to note that our patient's father was 50 years old at the time of her conception. The relatively advanced paternal age (50) would suggest the possibility of a newly mutant gene manifesting as a dominant trait.

Original languageEnglish (US)
Pages (from-to)370-371
Number of pages2
JournalBirth Defects: Original Article Series
Volume14
Issue number6 B
StatePublished - Jan 1 1978

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

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  • Cite this

    Gleiser, S., Weaver, D. D., Escobedo, M., & Nichols, G. (1978). Femoral hypoplasia - unusual facies syndrome. Birth Defects: Original Article Series, 14(6 B), 370-371.