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?
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.
Al-Sannaa
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N
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Forrest
C R
CR
Teebi
A S
AS
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000168:Acrocephalosyndactylia / Q000473:pathology; D019080:Cafe-au-Lait Spots / Q000235:genetics / Q000473:pathology; D003394:Craniofacial Dysostosis / Q000473:pathology; D004423:Ear / Q000002:abnormalities*; D005192:Family Health; D006343:Heart Septal Defects / Q000473:pathology; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D008844:Micrognathism / Q000473:pathology*; D013576:Syndactyly / Q000473:pathology; D013577:Syndrome