Orstavik K H, Tangsrud S E, Nordshus T, Finnanger A M, Hellum C, Gjessing E
Department of Medical Genetics, Ullevaal Hospital, Oslo, Norway.
J Med Genet. 1992 Nov;29(11):827-30. doi: 10.1136/jmg.29.11.827.
The orofaciodigital syndromes are a group of possibly seven different malformation syndromes including oral, facial, and digital malformations. Type I has X linked dominant inheritance whereas the other types show autosomal recessive inheritance. An exact diagnosis is therefore important for genetic counselling. We here report a girl with orofaciodigital syndrome type I. She had cystic kidney disease at the age of 8 months which has not previously been reported in an infant with orofaciodigital syndrome. In addition she had unilateral tibial pseudarthrosis which has only rarely been reported in the orofaciodigital syndromes and in type II only.
口面指综合征是一组可能包含七种不同畸形综合征的病症，包括口腔、面部和手指畸形。I型具有X连锁显性遗传，而其他类型表现为常染色体隐性遗传。因此，准确诊断对于遗传咨询很重要。我们在此报告一名患有I型口面指综合征的女孩。她在8个月大时患有多囊肾病，此前在患有口面指综合征的婴儿中尚未有过报道。此外，她还患有单侧胫骨假关节，这在口面指综合征中仅在II型中很少有报道。
