Pavone L, Rizzo R, Tiné A, Micali G, Sorge G, Neri G
Clinica Pediatrica, Università di Catania, Italy.
Am J Med Genet. 1989 Jun;33(2):190-3. doi: 10.1002/ajmg.1320330211.
We report on a patient, born to consanguineous parents, who had a complex malformation syndrome of severe upper limbs anomalies, peculiar face, structural ear anomalies, nasolacrimal duct obstruction, and abnormal hair and nails. We think that the clinical manifestations of the patient are similar to those described by Freire-Maia as the odontotrichomelic syndrome; the differential diagnosis between this syndrome and ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome is discussed.
我们报告了一名近亲结婚父母所生的患者，该患者患有复杂的畸形综合征，包括严重的上肢异常、特殊面容、耳部结构异常、鼻泪管阻塞以及毛发和指甲异常。我们认为该患者的临床表现与Freire-Maia所描述的牙毛发肢体综合征相似；并讨论了该综合征与缺指（趾）畸形、外胚层发育不良和唇腭裂（EEC）综合征之间的鉴别诊断。
