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.
Links
MeSH
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 -