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Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes.
Am J Med Genet. 1993 Oct 01; 47(5):698-701.AJ

Abstract

We report on sibs of both sexes with a multiple malformation syndrome of cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers. The older boy died in a tonic extension spasm at age 4 months. When discharged, the younger girl was 3.5 months old. This appears to be an autosomal recessive syndrome which to our knowledge has not been described before.

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Authors+Show Affiliations

Müller FM
University Children's Hospital, Mainz, Germany.
Barth GM
No affiliation info available
Menger H
No affiliation info available
Spranger J
No affiliation info available

MeSH

Abnormalities, MultipleBrainConsanguinityDiagnosis, DifferentialFaceFemaleFingersGenes, RecessiveHand Deformities, CongenitalHumansHypertrichosisInfantMaleSeizuresSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8266998

Citation

Müller, F M., et al. "Cerebral Malformation, Seizures, Hypertrichosis, Distinct Face, Claw Hands, and Overlapping Fingers in Sibs of Both Sexes." American Journal of Medical Genetics, vol. 47, no. 5, 1993, pp. 698-701.
Müller FM, Barth GM, Menger H, et al. Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes. Am J Med Genet. 1993;47(5):698-701.
Müller, F. M., Barth, G. M., Menger, H., & Spranger, J. (1993). Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes. American Journal of Medical Genetics, 47(5), 698-701.
Müller FM, et al. Cerebral Malformation, Seizures, Hypertrichosis, Distinct Face, Claw Hands, and Overlapping Fingers in Sibs of Both Sexes. Am J Med Genet. 1993 Oct 1;47(5):698-701. PubMed PMID: 8266998.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes. AU - Müller,F M, AU - Barth,G M, AU - Menger,H, AU - Spranger,J, PY - 1993/10/1/pubmed PY - 1993/10/1/medline PY - 1993/10/1/entrez SP - 698 EP - 701 JF - American journal of medical genetics JO - Am J Med Genet VL - 47 IS - 5 N2 - We report on sibs of both sexes with a multiple malformation syndrome of cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers. The older boy died in a tonic extension spasm at age 4 months. When discharged, the younger girl was 3.5 months old. This appears to be an autosomal recessive syndrome which to our knowledge has not been described before. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8266998/Cerebral_malformation_seizures_hypertrichosis_distinct_face_claw_hands_and_overlapping_fingers_in_sibs_of_both_sexes_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=47&issue=5&spage=698 DB - PRIME DP - Unbound Medicine ER -