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Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?
J Med Genet. 1999 Jun; 36(6):481-4.JM

Abstract

We report two sibs of Turkish descent with multiple congenital anomalies including severe microcephaly, hygroma colli, cystic renal dysplasia, and bilateral cutaneous syndactyly of toes IV-V. In addition, the second sib presented with bilateral fusion of the eyelids, a bicornuate uterus, and clitoromegaly. The parents are first cousins, which suggests autosomal recessive inheritance. In reviewing previously published reports, several cases were found with cerebral, renal, and digital anomalies as the main features. Several of the additional symptoms present in the second sib were suggestive of Fraser syndrome, but the severe microcephaly in both sibs is unusual. The differential diagnosis is discussed, including the possibility of an entirely new entity in the broad spectrum of syndromes with cerebral, renal, and digital anomalies.

Authors+Show Affiliations

Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Review

Language

eng

PubMed ID

10874639

Citation

Janssen, H C., et al. "Two Sibs With Microcephaly, Hygroma Colli, Renal Dysplasia, and Cutaneous Syndactyly: a New Lethal MCA Syndrome?" Journal of Medical Genetics, vol. 36, no. 6, 1999, pp. 481-4.
Janssen HC, Schaap C, Vandevijver N, et al. Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome? J Med Genet. 1999;36(6):481-4.
Janssen, H. C., Schaap, C., Vandevijver, N., Moerman, P., de Die-Smulders, C. E., & Fryns, J. P. (1999). Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome? Journal of Medical Genetics, 36(6), 481-4.
Janssen HC, et al. Two Sibs With Microcephaly, Hygroma Colli, Renal Dysplasia, and Cutaneous Syndactyly: a New Lethal MCA Syndrome. J Med Genet. 1999;36(6):481-4. PubMed PMID: 10874639.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome? AU - Janssen,H C, AU - Schaap,C, AU - Vandevijver,N, AU - Moerman,P, AU - de Die-Smulders,C E, AU - Fryns,J P, PY - 2000/6/30/pubmed PY - 2000/6/30/medline PY - 2000/6/30/entrez SP - 481 EP - 4 JF - Journal of medical genetics JO - J Med Genet VL - 36 IS - 6 N2 - We report two sibs of Turkish descent with multiple congenital anomalies including severe microcephaly, hygroma colli, cystic renal dysplasia, and bilateral cutaneous syndactyly of toes IV-V. In addition, the second sib presented with bilateral fusion of the eyelids, a bicornuate uterus, and clitoromegaly. The parents are first cousins, which suggests autosomal recessive inheritance. In reviewing previously published reports, several cases were found with cerebral, renal, and digital anomalies as the main features. Several of the additional symptoms present in the second sib were suggestive of Fraser syndrome, but the severe microcephaly in both sibs is unusual. The differential diagnosis is discussed, including the possibility of an entirely new entity in the broad spectrum of syndromes with cerebral, renal, and digital anomalies. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/10874639/Two_sibs_with_microcephaly_hygroma_colli_renal_dysplasia_and_cutaneous_syndactyly:_a_new_lethal_MCA_syndrome L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=10874639 DB - PRIME DP - Unbound Medicine ER -