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Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome?
Am J Med Genet. 2001 Jul 01; 101(3):279-82.AJ

Abstract

We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia, large ears, atrioventricular septal defect, vertebral anomalies, bilateral cutaneous syndactyly of fingers and toes, unilateral cryptorchidism and multiple café-au-lait spots. The mother of the propositus has multiple café-au-lait spots. Search of POSSUM and the London Dysmorphology Database (LDDB) uncovered no similar case. We think that this patient represents a new acrocraniofacial dysostosis syndrome.

Authors+Show Affiliations

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11424146

Citation

Al-Sannaa, N, et al. "Trigonomicrocephaly, Severe Micrognathia, Large Ears, Atrioventricular Septal Defect, Symmetrical Cutaneous Syndactyly of Hands and Feet, and Multiple Café-au-lait Spots: New Acrocraniofacial Dysostosis Syndrome?" American Journal of Medical Genetics, vol. 101, no. 3, 2001, pp. 279-82.
Al-Sannaa N, Forrest CR, Teebi AS. Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome? Am J Med Genet. 2001;101(3):279-82.
Al-Sannaa, N., Forrest, C. R., & Teebi, A. S. (2001). Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome? American Journal of Medical Genetics, 101(3), 279-82.
Al-Sannaa N, Forrest CR, Teebi AS. Trigonomicrocephaly, Severe Micrognathia, Large Ears, Atrioventricular Septal Defect, Symmetrical Cutaneous Syndactyly of Hands and Feet, and Multiple Café-au-lait Spots: New Acrocraniofacial Dysostosis Syndrome. Am J Med Genet. 2001 Jul 1;101(3):279-82. PubMed PMID: 11424146.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome? AU - Al-Sannaa,N, AU - Forrest,C R, AU - Teebi,A S, PY - 2001/6/26/pubmed PY - 2001/7/28/medline PY - 2001/6/26/entrez SP - 279 EP - 82 JF - American journal of medical genetics JO - Am J Med Genet VL - 101 IS - 3 N2 - We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia, large ears, atrioventricular septal defect, vertebral anomalies, bilateral cutaneous syndactyly of fingers and toes, unilateral cryptorchidism and multiple café-au-lait spots. The mother of the propositus has multiple café-au-lait spots. Search of POSSUM and the London Dysmorphology Database (LDDB) uncovered no similar case. We think that this patient represents a new acrocraniofacial dysostosis syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/11424146/Trigonomicrocephaly_severe_micrognathia_large_ears_atrioventricular_septal_defect_symmetrical_cutaneous_syndactyly_of_hands_and_feet_and_multiple_café_au_lait_spots:_new_acrocraniofacial_dysostosis_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2001&volume=101&issue=3&spage=279 DB - PRIME DP - Unbound Medicine ER -