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Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: a possibly new lethal syndrome.
Am J Med Genet. 1988 Apr; 29(4):901-8.AJ

Abstract

Absence of fibulae, and unilateral absence of ulna, associated with lateral oligodactyly, and rectangular bowing of the femora are the prominent features of a lethal syndrome studied in two children of related parents. Other malformations are cleft lip and palate and posterior midline abnormalities of the brain. One similar though not identical MCA-syndrome was reported. The literature is reviewed with respect to ulno-fibular malformations.

Authors+Show Affiliations

Pfeiffer RA
Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Bayreuth, Federal Republic of Germany.
Stöss H
No affiliation info available
Voight HJ
No affiliation info available
Wündisch GF
No affiliation info available

MeSH

Abnormalities, MultipleBrainCleft LipCleft PalateConsanguinityFacial BonesFemaleFemurFibulaFingersGenes, LethalHumansInfant, NewbornSyndromeToesUlna

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3400735

Citation

Pfeiffer, R A., et al. "Absence of Fibula and Ulna With Oligodactyly, Contractures, Right-angle Bowing of Femora, Abnormal Facial Morphology, Cleft Lip/palate and Brain Malformation in Two Sibs: a Possibly New Lethal Syndrome." American Journal of Medical Genetics, vol. 29, no. 4, 1988, pp. 901-8.
Pfeiffer RA, Stöss H, Voight HJ, et al. Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: a possibly new lethal syndrome. Am J Med Genet. 1988;29(4):901-8.
Pfeiffer, R. A., Stöss, H., Voight, H. J., & Wündisch, G. F. (1988). Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: a possibly new lethal syndrome. American Journal of Medical Genetics, 29(4), 901-8.
Pfeiffer RA, et al. Absence of Fibula and Ulna With Oligodactyly, Contractures, Right-angle Bowing of Femora, Abnormal Facial Morphology, Cleft Lip/palate and Brain Malformation in Two Sibs: a Possibly New Lethal Syndrome. Am J Med Genet. 1988;29(4):901-8. PubMed PMID: 3400735.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: a possibly new lethal syndrome. AU - Pfeiffer,R A, AU - Stöss,H, AU - Voight,H J, AU - Wündisch,G F, PY - 1988/4/1/pubmed PY - 1988/4/1/medline PY - 1988/4/1/entrez SP - 901 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 29 IS - 4 N2 - Absence of fibulae, and unilateral absence of ulna, associated with lateral oligodactyly, and rectangular bowing of the femora are the prominent features of a lethal syndrome studied in two children of related parents. Other malformations are cleft lip and palate and posterior midline abnormalities of the brain. One similar though not identical MCA-syndrome was reported. The literature is reviewed with respect to ulno-fibular malformations. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3400735/Absence_of_fibula_and_ulna_with_oligodactyly_contractures_right_angle_bowing_of_femora_abnormal_facial_morphology_cleft_lip/palate_and_brain_malformation_in_two_sibs:_a_possibly_new_lethal_syndrome_ DB - PRIME DP - Unbound Medicine ER -