[Klippel-Feil syndrome and associated malformations. Comments on an unusual case].
An unusual association of Klippel-Feil syndrome and other abnormalities (Sprengel's deformity, 1st cervical and 1st dorsal spina bifida, homovertebral bone, scoliosis, plagiocephaly, basilar impression, pterygium colli, nanism, hypogenitalism, etc.) together with neurological signs of amyotrophic lateral sclerosis, in a 36-yr-old woman is reported. The clinical and radiological pictures are examined and the exterior morphology is examined. The three types of Klippel-Feil syndrome are discussed, together with the particular alterations observed in the present case: Sprengel's deformity, spina bifida, craniostenosis, basilar impression, etc.
D000015:Abnormalities, Multiple; D000328:Adult; D002574:Cervical Vertebrae / Q000002:abnormalities; D004392:Dwarfism / Q000150:complications; D005260:Female; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000150:complications*; D009333:Neck / Q000002:abnormalities; D010985:Platybasia / Q000150:complications; D011625:Pterygium / Q000150:complications; D012540:Scapula / Q000002:abnormalities; D012600:Scoliosis / Q000150:complications; D012886:Skull / Q000002:abnormalities; D016135:Spinal Dysraphism / Q000150:complications; D013577:Syndrome
Sindrome di Klippel-Feil e malformazioni associate. Commenti su di una rara osservazione