Literature DB >> 28969231

Femoral Hypoplasia with Unusual Facies Syndrome.

Sreekanth R Shenoy1, Dipankar Mondal1, Manas Ranjan Upadhyay2, Bhupendra Kumar Gupta1, Jatadhari Mahar3.   

Abstract

Femoral facial syndrome is a rare clinical entity characterized by unilateral or bilateral femoral hypoplasia along with various malformations of face. Only few cases have been detected by antenatal ultrasonography so far. We present the case of one-day-old, male child, born to a primi gravida with oligohydramnios and severe growth restriction. The child had unusual facies with posterior cleft palate, non-communicating hydrocephalus and complete absences of left femur, hypoplasia of right femur, bilateral club foot and bilateral undescended testis.

Entities:  

Keywords:  Cleft palate; Diabetes; Oligohydramnios; Short limbs

Year:  2017        PMID: 28969231      PMCID: PMC5620872          DOI: 10.7860/JCDR/2017/27632.10481

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  8 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.  Femoral hypoplasia--unusual facies syndrome.

Authors:  D L Daentl; D W Smith; C I Scott; B D Hall; C A Gooding
Journal:  J Pediatr       Date:  1975-01       Impact factor: 4.406

3.  Dominant inheritance of femoral hypoplasia-unusual facies syndrome.

Authors:  R P Lampert
Journal:  Clin Genet       Date:  1980-04       Impact factor: 4.438

4.  A case of femoral-facial syndrome in a patient with autism spectrum disorders.

Authors:  D Vecchio; E Salzano; A Vecchio; T Di Filippo; M Roccella
Journal:  Minerva Pediatr       Date:  2011-08       Impact factor: 1.312

5.  Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers.

Authors:  J P Johnson; J C Carey; W M Gooch; J Petersen; J F Beattie
Journal:  J Pediatr       Date:  1983-06       Impact factor: 4.406

6.  The femoral hypoplasia-unusual facies syndrome.

Authors:  J Burn; R M Winter; M Baraitser; C M Hall; J Fixsen
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

Review 7.  Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus.

Authors:  D Paladini; G M Maruotti; G Sglavo; I Penner; F Leone; M R D'Armiento; P Martinelli
Journal:  Ultrasound Obstet Gynecol       Date:  2007-09       Impact factor: 7.299

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

Authors:  O P Tadmor; C Hammerman; R Rabinowitz; D Fisher; M Itzchaki; Y Aboulafia; Y Z Diamant
Journal:  Fetal Diagn Ther       Date:  1993 Jul-Aug       Impact factor: 2.587

  8 in total
  1 in total

1.  First Reported Case of Femoral Facial Syndrome in an Adult: Esophageal Adenocarcinoma as a Progressive Gastrointestinal Manifestation.

Authors:  Cynthia A Reyes; Juliana N Young; Paul R Torres
Journal:  Cureus       Date:  2022-04-19
  1 in total

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