Literature DB >> 7363910

Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome.

W Fuhrmann, A Fuhrmann-Rieger, F de Sousa.   

Abstract

An apparently hitherto undescribed, severe skeletal syndrome is reported in 3 siblings (2 boys, 1 girl) in a family of Turkish-Arabian descent. Major manifestations include: hypoplasia of the pelvis, congenital dislocation of the hip, severe bowing of femora, aplasia or hypoplasia of fibulae, absence or coalescence of tarsal bones, absence of various metatarsals, hypoplasia and aplasia of toes, clinodactyly, hypoplasia of fingers and fingernails, and postaxial polydactyly. Consanguinity is denied, but the fact that both parents belong to the same Christian minority from the same province may indicate common ancestry. Autosomal recessive inheritance is presumed.

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Year:  1980        PMID: 7363910     DOI: 10.1007/bf00441580

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  6 in total

1.  Prenatal bowing and angulation of long bones; a description of its occurrence in a brother and sister.

Authors:  T J CONWAY
Journal:  AMA J Dis Child       Date:  1958-03

2.  Congenital bowing and angulation of long bones.

Authors:  C R ANGLE
Journal:  Pediatrics       Date:  1954-03       Impact factor: 7.124

3.  Prenatal bowing and thickening of tubular bones, with multiple cutaneous dimples in arms and legs; a congenital syndrome of mechanical origin.

Authors:  J CAFFEY
Journal:  Am J Dis Child       Date:  1947-11

4.  [Disease picture of congenital bowing of long bones].

Authors:  E Rupprecht; U Manitz
Journal:  Helv Paediatr Acta       Date:  1973-11

5.  [Congenital bowing of long bones--occurrence in two sisters].

Authors:  A Stüve; H R Wiedemann
Journal:  Z Kinderheilkd       Date:  1971

6.  [Defects of the femur and fibula with amelia, peromelia or ulnar defects of the arm. A syndrome].

Authors:  D Kühne; W Lenz; D Petersen; H Schönenberg
Journal:  Humangenetik       Date:  1967
  6 in total
  7 in total

Review 1.  Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

Authors:  A Raas-Rothschild; R M Goodman; S Meyer; M B Katznelson; S T Winter; E Gross; M Tamarkin; T Ben-Ami; L Nebel; S Mashiach
Journal:  J Med Genet       Date:  1988-10       Impact factor: 6.318

2.  Santos syndrome is caused by mutation in the WNT7A gene.

Authors:  Leandro U Alves; Silvana Santos; Camila M Musso; Suzana Am Ezquina; John M Opitz; Fernando Kok; Paulo A Otto; Regina C Mingroni-Netto
Journal:  J Hum Genet       Date:  2017-08-31       Impact factor: 3.172

3.  Acute renal failure due to xanthine stones.

Authors:  M G Bradbury; M Henderson; J T Brocklebank; H A Simmonds
Journal:  Pediatr Nephrol       Date:  1995-08       Impact factor: 3.714

4.  Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Report of the clinical and radiological findings in two siblings.

Authors:  E Rezza; G Iannaccone; D Lendvai
Journal:  Pediatr Radiol       Date:  1984

5.  Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant.

Authors:  Ebtesam M Abdalla; Ahmed A El-Beheiry
Journal:  J Pediatr Genet       Date:  2017-01-02

Review 6.  Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology.

Authors:  Zeng Zhang; Dan Yi; Rong Xie; John L Hamilton; Qing-Lin Kang; Di Chen
Journal:  Ann N Y Acad Sci       Date:  2017-10-09       Impact factor: 5.691

Review 7.  Genetics of the patella.

Authors:  Mark E Samuels; Philippe M Campeau
Journal:  Eur J Hum Genet       Date:  2019-01-21       Impact factor: 4.246

  7 in total

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