Literature DB >> 7903145

Femoral hypoplasia--unusual facies syndrome: prenatal ultrasonographic observations.

O P Tadmor1, C Hammerman, R Rabinowitz, D Fisher, M Itzchaki, Y Aboulafia, Y Z Diamant.   

Abstract

FH-UFS is a rare syndrome characterized by bilateral femoral hypoplasia, together with facial dysmorphism. To the best of our knowledge, this is the first report describing prenatal ultrasonographic findings and in utero growth pattern of an infant with FH-UFS. Via analysis of our data it appears that the growth of the femur in our case was normal until the 24th week of pregnancy, at which time some in-utero insult occurred, resulting in temporarily arrested femoral growth. From the 34th week of pregnancy onward femoral growth rates returned to normal. We assume, therefore, that the etiology of FH-UFS is multifactorial. Only a combination of some hereditary proclivity, together with an intrauterine insult (possibly viral) could explain the appearance in the same fetus of cleft palate, developing at the 7th week of gestation, and a time-specific (25-32 weeks) disturbance of femoral growth.

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Year:  1993        PMID: 7903145     DOI: 10.1159/000263840

Source DB:  PubMed          Journal:  Fetal Diagn Ther        ISSN: 1015-3837            Impact factor:   2.587


  3 in total

1.  Additional malformations in femoral hypoplasia: unusual facies syndrome.

Authors:  Anoop Verma; Navneet Jain; Karuna Jain
Journal:  Indian J Pediatr       Date:  2002-06       Impact factor: 1.967

2.  Lethal femoral-facial syndrome: a case with unusual manifestations.

Authors:  Y Gillerot; C Fourneau; T Willems; L Van Maldergem
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

3.  Femoral Hypoplasia with Unusual Facies Syndrome.

Authors:  Sreekanth R Shenoy; Dipankar Mondal; Manas Ranjan Upadhyay; Bhupendra Kumar Gupta; Jatadhari Mahar
Journal:  J Clin Diagn Res       Date:  2017-08-01
  3 in total

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