Literature DB >> 8929957

Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.

M A Sabry1, D Obenbergerova, R Al-Sawan, Q A Saleh, S Farah, S A Al-Awadi, T I Farag.   

Abstract

A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously described rare association of femoral hypoplasia-unusual facies syndrome with preaxial polydactyly and suggests that the clinical spectrum of the syndrome could be stretched further to accommodate other unusual traits, for example, macrophallus and absent tibia.

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Year:  1996        PMID: 8929957      PMCID: PMC1051846          DOI: 10.1136/jmg.33.2.165

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  5 in total

1.  Preaxial polydactyly of feet in infants of diabetic mothers: epidemiological test of a clinical hypothesis.

Authors:  M L Martínez-Frías; E Bermejo; A Cereijo
Journal:  Am J Med Genet       Date:  1992-03-01

2.  Case report: femoral hypoplasia - unusual facies syndrome.

Authors:  D B Pitt; I I Findlay; W G Cole; J G Rogers
Journal:  Aust Paediatr J       Date:  1982-03

3.  Bilateral femoral dysgenesis syndrome: a case report.

Authors:  R B Goldberg; B Fish; M M Cohen; R J Shprintzen
Journal:  Cleft Palate J       Date:  1978-10

Review 4.  Femoral hypoplasia unusual facies syndrome with preaxial polydactyly.

Authors:  M Baraitser; W Reardon; C Oley; J Fixsen
Journal:  Clin Dysmorphol       Date:  1994-01       Impact factor: 0.816

Review 5.  Diabetes in pregnancy: experimental aspects.

Authors:  E Giavini
Journal:  Ann Ist Super Sanita       Date:  1993       Impact factor: 1.663

  5 in total
  4 in total

1.  Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography.

Authors:  Santina Ermito; Angela Dinatale; Sabina Carrara; Alessandro Cavaliere; Laura Imbruglia; Stefania Recupero
Journal:  J Prenat Med       Date:  2009-04

2.  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

3.  Femoral-facial syndrome in an infant of a diabetic mother.

Authors:  Saleem Ahmed; Saad Abdullah Alsaedi; Heidi Al-Wassia; Jumana Yousef Al-Aama
Journal:  BMJ Case Rep       Date:  2015-07-06

4.  The Clinical Manifestations of Femoral-Facial Syndrome in an Orthopaedic Patient.

Authors:  Abdullah Ghali; Luis Salazar; David Momtaz; Gautham Prabhakar; Preston Richier; Anil Dutta
Journal:  Case Rep Orthop       Date:  2021-06-14
  4 in total

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