Fuhrmann syndrome of right‐angle bowed femora, absence of fibulae and digital anomalies: Two further cases

Lipson, Anthony; Kozlowski, K.; Barylak, A; Marsden, William

doi:10.1002/ajmg.1320410208

Cited by 14 publications

(8 citation statements)

References 8 publications

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“…Although consanguinity was not recorded, the authors postulated autosomal recessive inheritance on the basis of the highly inbred ethnic origin of the family. Two possible further cases have been identified as similar to the original description of the Fuhrmann syndrome [Lipson et al, 1991]. The parents of one patient were Polish, but non-consanguineous, and the second patient was born to South Vietnamese refugees from an isolate of Baptists in a village in the Mekong Delta of South Vietnam.…”

Section: Discussionmentioning

confidence: 86%

Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: A possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild

Kumar

Duggan²,

Mueller

et al. 1997

Am. J. Med. Genet.

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We describe four affected children belonging to a large, highly inbred Muslim family originating from the North West Frontier Province of Pakistan. All children have a similar pattern of skeletal abnormalities, including aplasia/hypoplasia of the ulnae, hypoplasia of the pelvis, aplasia/hypoplasia of the femora, fibular aplasia, and variable digital abnormalities and absent/dysplastic nails. The phenotype overlaps with the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild. The present and previously reported families probably share the same geographic and racial origin, indicating a common genetic basis of the reported skeletal abnormalities in these limb-pelvis aplasia and hypoplasia syndromes. A possibility of a new autosomal recessive syndrome in the present family cannot be excluded. Further delineation and molecular studies are required to clarify the genetic cause and phenotypic variation in Fuhrmann, Al-Awadi, and Raas-Rothschild syndromes.

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Section: Discussionmentioning

confidence: 86%

Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: A possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild

Kumar

Duggan²,

Mueller

et al. 1997

Am. J. Med. Genet.

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“…He shares significant similarities with the cases described by Kumar et al, 1997;Fuhrmann et al, 1980;1982;Aynaci et al, 2001;Huber et al, 2003 andLipson et al, 1991. He shares significant similarities with the cases described by Kumar et al, 1997;Fuhrmann et al, 1980;1982;Aynaci et al, 2001;Huber et al, 2003 andLipson et al, 1991.…”

Section: Discussionmentioning

confidence: 54%

Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails

Girisha

Vasudevan

Saadi

et al. 2011

Clinical Dysmorphology

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“…Fibular ''aplasia'' or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly, OMIM 228930 [Fuhrmann et al, 1980[Fuhrmann et al, , 1982Pfeiffer et al, 1988;FIG. 5 FIBULAR AGENESIS/HYPOPLASIA Lipson et al, 1991;Kumar et al, 1997;Aynaci et al, 2001;Huber et al, 2003;Woods et al, 2006]. Evans et al [2002] listed all published cases of familial fibular ''aplasia''/hypoplasia with ectrodactyly; the phenotype described here does not fit any of them.…”

Section: Discussionmentioning

confidence: 77%

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects

Santos

Pardono

Costa

et al. 2008

American J of Med Genetics Pt A

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We describe an apparently new genetic syndrome in six members of a family living in a remote area in Northeastern Brazil. This syndrome comprises: short stature due to a marked decrease in the length of the lower limbs (predominantly mesomelic with fibular agenesis/marked hypoplasia), grossly malformed/deformed clubfeet with severe oligodactyly, upper limbs with acromial dimples and variable motion limitation of the forearms and/or hands, severe nail hypoplasia/anonychia sometimes associated with mild brachydactyly and occasionally with pre-axial polydactyly. This syndrome is apparently distinct from the syndrome of brachydactyly-ectrodactyly with fibular aplasia or hypoplasia (OMIM 113310), the syndrome of fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly (OMIM 228930), and from other previously described conditions exhibiting fibular agenesis/hypoplasia.

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Fuhrmann syndrome of right‐angle bowed femora, absence of fibulae and digital anomalies: Two further cases

Cited by 14 publications

References 8 publications

Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: A possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild

Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: A possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild

Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects

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