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Literature DB >> 6502648

The femoral hypoplasia-unusual facies syndrome.

J Burn, R M Winter, M Baraitser, C M Hall, J Fixsen.

Abstract

A series of thirteen persons with bilateral femoral hypoplasia are presented. Six of these had facial features compatible with a diagnosis of femoral hypoplasia-unusual facies syndrome. One was attributable to severe fetal constraint secondary to oligohydramnios, three were associated with maternal diabetes, and two were idiopathic. All thirteen cases were sporadic.

Entities: Disease Species

Mesh：

Year: 1984 PMID： 6502648 PMCID： PMC1049313 DOI： 10.1136/jmg.21.5.331

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

10 in total

1. 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

Review 2. Is insulin a teratogen?

Authors: W Landauer
Journal: Teratology Date: 1972-04

3. Bilateral femoral dysgenesis.

Authors: J A Bailey; P Beighton
Journal: Clin Pediatr (Phila) Date: 1970-11 Impact factor: 1.168

4. 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

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

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

6. 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

7. The femoral hypoplasia-unusual facies syndrome: a genetic entity?

Authors: J Lord; P Beighton
Journal: Clin Genet Date: 1981-10 Impact factor: 4.438

8. Femoral hypoplasia-unusual facies syndrome, from another viewpoint.

Authors: S Gleiser; D D Weaver; V Escobar; G Nichols; M Escobedo
Journal: Eur J Pediatr Date: 1978-05-22 Impact factor: 3.183

9. Proximal femoral focal deficiency associated with the Robin anomalad.

Authors: E R Graviss; P A Monteleone; L R Wampler; M J Silberstein; A E Brodeur
Journal: J Med Genet Date: 1980-10 Impact factor: 6.318

10. Bilateral femoral dysgenesis with micrognathia, cleft palate, anomalies of the spine and pelvis, and foot deformities. Clinical and radiological findings.

Authors: U Burck; T Riebel; K R Held; M Stoeckenius
Journal: Helv Paediatr Acta Date: 1981-11

10 in total

11 in total

The femoral hypoplasia-unusual facies syndrome.

1. Femoral hypoplasia--unusual facies syndrome.

Review 2. Is insulin a teratogen?

3. Bilateral femoral dysgenesis.

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

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

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

7. The femoral hypoplasia-unusual facies syndrome: a genetic entity?

8. Femoral hypoplasia-unusual facies syndrome, from another viewpoint.

9. Proximal femoral focal deficiency associated with the Robin anomalad.

10. Bilateral femoral dysgenesis with micrognathia, cleft palate, anomalies of the spine and pelvis, and foot deformities. Clinical and radiological findings.

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

2. Grebe syndrome: a second case with extremely severe manifestations.

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

4. Multiple pterygium syndrome: evolution of the phenotype.

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

Review 6. Teratogenic inborn errors of metabolism.

7. Kyphomelic dysplasia.

8. Femoral Hypoplasia with Unusual Facies Syndrome.

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

10. Anesthetic experience in a child with femoral hypoplasia-unusual facies syndrome.