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Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark?
Am J Med Genet. 1996 May 03; 63(1):74-9.AJ

Abstract

We report on a male infant with internal hydrocephalus, absence of corpus callosum, papillomas and lobulation of the tongue, notches of the alveolar ridges, short ribs, dysplastic pelvis, hypospadias, short limbs with bowed long tubular bones and postaxial polydactyly of hands, and preaxial polydactyly in one foot. Radiologically this case shares manifestations with Jeune syndrome; the tongue lobulation and the preaxial polydactyly are similar to findings in Mohr syndrome, or short-rib polydactyly syndrome (SRPS), type Majewski. In addition, a female newborn presented with manifestations of Jeune and Ivemark syndromes. One explanation for this overlap may be compound heterozygosity for these syndromes.

Authors+Show Affiliations

Institut für Humangenetik und Anthropologie, Heinrich-Heine Universität Düsseldorf, Germany.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8723090

Citation

Majewski, E, et al. "Jeune Syndrome With Tongue Lobulation and Preaxial Polydactyly, and Jeune Syndrome With Situs Inversus and Asplenia: Compound Heterozygosity Jeune-Mohr and Jeune-Ivemark?" American Journal of Medical Genetics, vol. 63, no. 1, 1996, pp. 74-9.
Majewski E, Oztürk B, Gillessen-Kaesbach G. Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark? Am J Med Genet. 1996;63(1):74-9.
Majewski, E., Oztürk, B., & Gillessen-Kaesbach, G. (1996). Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark? American Journal of Medical Genetics, 63(1), 74-9.
Majewski E, Oztürk B, Gillessen-Kaesbach G. Jeune Syndrome With Tongue Lobulation and Preaxial Polydactyly, and Jeune Syndrome With Situs Inversus and Asplenia: Compound Heterozygosity Jeune-Mohr and Jeune-Ivemark. Am J Med Genet. 1996 May 3;63(1):74-9. PubMed PMID: 8723090.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark? AU - Majewski,E, AU - Oztürk,B, AU - Gillessen-Kaesbach,G, PY - 1996/5/3/pubmed PY - 2000/6/20/medline PY - 1996/5/3/entrez SP - 74 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 63 IS - 1 N2 - We report on a male infant with internal hydrocephalus, absence of corpus callosum, papillomas and lobulation of the tongue, notches of the alveolar ridges, short ribs, dysplastic pelvis, hypospadias, short limbs with bowed long tubular bones and postaxial polydactyly of hands, and preaxial polydactyly in one foot. Radiologically this case shares manifestations with Jeune syndrome; the tongue lobulation and the preaxial polydactyly are similar to findings in Mohr syndrome, or short-rib polydactyly syndrome (SRPS), type Majewski. In addition, a female newborn presented with manifestations of Jeune and Ivemark syndromes. One explanation for this overlap may be compound heterozygosity for these syndromes. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8723090/Jeune_syndrome_with_tongue_lobulation_and_preaxial_polydactyly_and_Jeune_syndrome_with_situs_inversus_and_asplenia:_compound_heterozygosity_Jeune_Mohr_and_Jeune_Ivemark L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=63&issue=1&spage=74 DB - PRIME DP - Unbound Medicine ER -