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Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance.
Am J Med Genet. 1988 Feb; 29(2):263-8.AJ

Abstract

We describe a man with manifestations of the Adams-Oliver syndrome: congenital scalp defect with hypoplastic fingers and toes. The patient has normal first-cousin parents: among seven sibs, three sisters and two brothers are normal; two brothers born with the same scalp lesion died as a consequence of bleeding from this abnormal area. There is no evidence of other affected relatives. The family of our patient is suggestive of autosomal recessive inheritance of this disorder with phenotypic manifestations identical to those present in the autosomal dominant form. Dermatoglyphic findings are discussed.

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Authors+Show Affiliations

Koiffmann CP
Department of Biology, Institute of Biosciences, São Paulo, Brazil.
Wajntal A
No affiliation info available
Huyke BJ
No affiliation info available
Castro RM
No affiliation info available

MeSH

Abnormalities, MultipleAdultDermatoglyphicsGenes, RecessiveHumansLimb Deformities, CongenitalMalePedigreeScalpSkullSyndrome

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

3354597

Citation

Koiffmann, C P., et al. "Congenital Scalp Skull Defects With Distal Limb Anomalies (Adams-Oliver syndrome--McKusick 10030): Further Suggestion of Autosomal Recessive Inheritance." American Journal of Medical Genetics, vol. 29, no. 2, 1988, pp. 263-8.
Koiffmann CP, Wajntal A, Huyke BJ, et al. Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance. Am J Med Genet. 1988;29(2):263-8.
Koiffmann, C. P., Wajntal, A., Huyke, B. J., & Castro, R. M. (1988). Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance. American Journal of Medical Genetics, 29(2), 263-8.
Koiffmann CP, et al. Congenital Scalp Skull Defects With Distal Limb Anomalies (Adams-Oliver syndrome--McKusick 10030): Further Suggestion of Autosomal Recessive Inheritance. Am J Med Genet. 1988;29(2):263-8. PubMed PMID: 3354597.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance. AU - Koiffmann,C P, AU - Wajntal,A, AU - Huyke,B J, AU - Castro,R M, PY - 1988/2/1/pubmed PY - 1988/2/1/medline PY - 1988/2/1/entrez SP - 263 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 29 IS - 2 N2 - We describe a man with manifestations of the Adams-Oliver syndrome: congenital scalp defect with hypoplastic fingers and toes. The patient has normal first-cousin parents: among seven sibs, three sisters and two brothers are normal; two brothers born with the same scalp lesion died as a consequence of bleeding from this abnormal area. There is no evidence of other affected relatives. The family of our patient is suggestive of autosomal recessive inheritance of this disorder with phenotypic manifestations identical to those present in the autosomal dominant form. Dermatoglyphic findings are discussed. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3354597/Congenital_scalp_skull_defects_with_distal_limb_anomalies__Adams_Oliver_syndrome__McKusick_10030_:_further_suggestion_of_autosomal_recessive_inheritance_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1988&volume=29&issue=2&spage=263 DB - PRIME DP - Unbound Medicine ER -