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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.
Am J Med Genet. 1997 May 16; 70(2):107-13.AJ

Abstract

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.

Authors+Show Affiliations

Centre for Human Genetics, Childrens Hospital, Sheffield, United Kingdom.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9128926

Citation

Kumar, D, et al. "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." American Journal of Medical Genetics, vol. 70, no. 2, 1997, pp. 107-13.
Kumar D, Duggan MB, Mueller RF, et al. 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. Am J Med Genet. 1997;70(2):107-13.
Kumar, D., Duggan, M. B., Mueller, R. F., & Karbani, G. (1997). 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. American Journal of Medical Genetics, 70(2), 107-13.
Kumar D, et al. 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. Am J Med Genet. 1997 May 16;70(2):107-13. PubMed PMID: 9128926.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Kumar,D, AU - Duggan,M B, AU - Mueller,R F, AU - Karbani,G, PY - 1997/5/16/pubmed PY - 2000/6/20/medline PY - 1997/5/16/entrez SP - 107 EP - 13 JF - American journal of medical genetics JO - Am J Med Genet VL - 70 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9128926/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_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1997&volume=70&issue=2&spage=107 DB - PRIME DP - Unbound Medicine ER -