| 概要 |
Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing clinodactyly of the index finger. Pierre Robin sequence is defined by micrognathia, obstruction of the airways due to a backward displacement of the tongue base, and, often but not always, cleft palate. Cardiac abnormalities, facial dysmorphisms, and additional skeletal abnormalities have also been described in a subset of patients with Catel-Manzke syndrome. Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to cause Catel-Manzke syndrome.
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| 著者 |
Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmuller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nurnberg P, Siebert R, Manzke H, Mundlos S |
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