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Query: UMLS:C0265264 (HOS)
 1,119 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a family in which five members in three generations have been afflicted with Duane syndrome. Four of the five members also have congenital hypoplasia of the thenar eminence. One also was afflicted with Hirschsprung disease and another was born deaf. A sixth member, who does not have Duane syndrome, is afflicted with a more extensive malformation of the upper extremities and unilateral deafness. We present a discussion of Duane syndrome and its association with other congenital anomalies. Although some members of this family presented in this report show features that are similar to the Holt-Oram syndrome, Wildervanck's syndrome, and others reported in the literature, there are several unique features about this family that we thought were worth reporting.
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PMID:Duane syndrome and congenital upper-limb anomalies. A familial occurrence. 84 49

We report on a family with Klippel-Feil anomaly (KF), Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease abnormalities. This combination of abnormalities does not fit into Holt-Oram syndrome, Wildervanck syndrome, oculo-auriculo-vertebral (Goldenhar) anomaly, or the VATER complex. Clinical aspects of a KF classification are discussed. The state of molecular research on KF is briefly reported. We conclude that this set of anomalies is a novel combination, probably representing pleiotropy of a single Mendelian gene.
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PMID:Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome? 1139 60