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Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?
Am J Med Genet. 1987 Feb; 26(2):481-91.AJ

Abstract

We report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient 1 had a Dandy-Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypoplasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio-ventricular canal and died after unsuccessful heart operation at 3 1/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occurrence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3812597

Citation

Ritscher, D, et al. "Dandy-Walker(like) Malformation, Atrio-ventricular Septal Defect and a Similar Pattern of Minor Anomalies in 2 Sisters: a New Syndrome?" American Journal of Medical Genetics, vol. 26, no. 2, 1987, pp. 481-91.
Ritscher D, Schinzel A, Boltshauser E, et al. Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? Am J Med Genet. 1987;26(2):481-91.
Ritscher, D., Schinzel, A., Boltshauser, E., Briner, J., Arbenz, U., & Sigg, P. (1987). Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? American Journal of Medical Genetics, 26(2), 481-91.
Ritscher D, et al. Dandy-Walker(like) Malformation, Atrio-ventricular Septal Defect and a Similar Pattern of Minor Anomalies in 2 Sisters: a New Syndrome. Am J Med Genet. 1987;26(2):481-91. PubMed PMID: 3812597.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? AU - Ritscher,D, AU - Schinzel,A, AU - Boltshauser,E, AU - Briner,J, AU - Arbenz,U, AU - Sigg,P, PY - 1987/2/1/pubmed PY - 1987/2/1/medline PY - 1987/2/1/entrez SP - 481 EP - 91 JF - American journal of medical genetics JO - Am J Med Genet VL - 26 IS - 2 N2 - We report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient 1 had a Dandy-Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypoplasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio-ventricular canal and died after unsuccessful heart operation at 3 1/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occurrence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3812597/Dandy_Walker_like__malformation_atrio_ventricular_septal_defect_and_a_similar_pattern_of_minor_anomalies_in_2_sisters:_a_new_syndrome DB - PRIME DP - Unbound Medicine ER -