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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.

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Authors+Show Affiliations

Al-Sannaa N
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Forrest CR
No affiliation info available
Teebi AS
No affiliation info available

MeSH

Abnormalities, MultipleAcrocephalosyndactyliaCafe-au-Lait SpotsCraniofacial DysostosisEarFamily HealthHeart Septal DefectsHumansInfantLimb Deformities, CongenitalMaleMicrocephalyMicrognathismSyndactylySyndrome

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_caf��_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 -